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Journal articles on the topic 'Hypophosphatemic Rickets'

Author: Grafiati

Published: 3 June 2025

Last updated: 31 July 2025

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1

Maltsev, S. V., A. I. Safina та T. V. Mihajlova. "Гипофосфатемический рахит у детей — клинические и генетические аспекты, подходы к терапии". Practical medicine 19, № 1 (2021): 38–49. http://dx.doi.org/10.32000/2072-1757-2021-1-38-49.

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Hypophosphatemic rickets (phosphate-diabetes) is a group of diseases associated with a defect in the reabsorption of phosphates in the proximal tubules, manifested by phosphaturia, hypophosphatemia and rickets deformities of the skeleton bones. Phosphate-diabetes has different genetic variants that determine the nature and severity of clinical manifestations. X-linked dominant hypophosphatemic rickets occurs most often (in 50-90% of cases). For the diagnosis, along with clinical characteristics, an important role is assigned to the study of partial renal functions, with the determination of cl

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2

Varuna, Sugha, and Bharti Sapna. "A Mismanaged Case of Hypophosphatemic Rickets." International Journal of Science and Healthcare Research 7, no. 3 (2022): 375–77. http://dx.doi.org/10.52403/ijshr.20220750.

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X-linked hypophosphatemic rickets is a common cause of inherited hypophosphatemia and is caused by mutation in the PHEX gene, resulting in excessive expression of FGF23 which causes phosphaturia. Due to its rarity, X linked hypophosphatemic rickets is poorly known and diagnosis is frequently delayed. Conventional treatment is based on oral phosphate salts supplementation and activated vitamin D analogs, which however, cannot cure the disease in most cases. Keywords: X linked hypophosphatemic rickets, FGF23, PTH

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3

Sarat, Gummadapu, Nuthalapati Priyanka, Meka Purna Venkata Prabhat, Chintamaneni Raja Lakshmi, Sujana Mulk Bhavana, and Dharmavaram Ayesha Thabusum. "Hypophosphatemic Rickets in Siblings: A Rare Case Report." Case Reports in Dentistry 2016 (2016): 1–8. http://dx.doi.org/10.1155/2016/4803167.

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Hypophosphatemic rickets (HR) is a type of hereditary rickets characterized by persistent hypophosphatemia and hyperphosphaturia. The most predominant type is inherited in an X-linked fashion and caused by mutation in the gene encoding the phosphate-regulating endopeptidase homolog, X-linked (PHEX), identified in 1995. The X-linked hypophosphatemic (XLH) rickets is a rare hereditary metabolic disorder with a prevalence of 1 in 20,000 and causes deficient calcification of mineralized structures such as bones and teeth resulting in dental problems in terms of delayed eruption, spontaneous periap

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4

Kumar, Sandeep, Ravikumar Shah, Virendra Patil, et al. "Tumor-induced rickets-osteomalacia: an enigma." Journal of Pediatric Endocrinology and Metabolism 33, no. 8 (2020): 1097–103. http://dx.doi.org/10.1515/jpem-2020-0079.

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AbstractObjectivesWe report a case of pediatric thoracic tumor-induced osteomalacia (TIO) causing severe hypophosphatemic rickets with delayed diagnosis and emphasize on timely management of this rare entity.Case presentationA young boy presented with rickets since five years of age. Biochemical evaluation revealed hypophosphatemia, hyperphosphaturia, elevated alkaline phosphatase and normal calcium levels. Initially managed as hereditary hypophosphatemic rickets, he was given phosphorus supplements and calcitriol. Despite the therapy, skeletal deformities worsened requiring surgical correctio

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5

Alnajashi, Ibrahim, Wejdan Alshehri, and Noor Shihabi. "The Efficacy of Burosumab Treatment for Hypophosphatemic Rickets: Systematic Review." Asian Journal of Medicine and Health 21, no. 12 (2023): 101–12. http://dx.doi.org/10.9734/ajmah/2023/v21i12965.

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Background/Objective: The approval of burosumab for the treatment of X-linked hypophosphatemia (XLH) in adults and children is a significant milestone. Nevertheless, there is a scarcity of data regarding its safety and efficacy in adolescents. The primary objective of this research is to assess the safety and effectiveness of burosumab in the treatment of hypophosphatemia rickets in adolescents. Methods: An extensive and comprehensive search was carried out primarily utilizing the PubMed database, in accordance with the PRISMA criteria. The search parameters were confined to studies cond

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Alsaffar, Hussain, Hajar Dauleh, and Khadija Ali. "X-Linked Hypophosphatemia at the European Society of Pediatric Endocrinology Meeting 2022." Journal of Diabetes and Endocrine Practice 06, no. 02 (2023): 068–70. http://dx.doi.org/10.1055/s-0043-1768977.

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AbstractRickets, a growth plate disorder, is classified into calcipenic and phosphopenic types based on the etiology. Phosphopenic rickets can be further classified into fibroblast growth factor 23 (FGF23) mediated and non-FGF23 mediated. FGF-23 has a phosphaturic effect which results in hypophosphatemia and, therefore, the accumulation of hypertrophied chondrocytes, leading to rachitic changes in the bones. One of the most common causes of inherited hypophosphatemic rickets is X-linked hypophosphatemia (XLH), mainly due to a mutation in the PHEX gene that ends in the extended release of FGF-2

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7

Nakanishi, Tatsuro, and Toshimi Michigami. "Pathogenesis of FGF23-Related Hypophosphatemic Diseases Including X-linked Hypophosphatemia." Endocrines 3, no. 2 (2022): 303–16. http://dx.doi.org/10.3390/endocrines3020025.

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Since phosphate is indispensable for skeletal mineralization, chronic hypophosphatemia causes rickets and osteomalacia. Fibroblast growth factor 23 (FGF23), which is mainly produced by osteocytes in bone, functions as the central regulator of phosphate metabolism by increasing the renal excretion of phosphate and suppressing the production of 1,25-dihydroxyvitamin D. The excessive action of FGF23 results in hypophosphatemic diseases, which include a number of genetic disorders such as X-linked hypophosphatemic rickets (XLH) and tumor-induced osteomalacia (TIO). Phosphate-regulating gene homolo

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8

Borghi, Mauro M. S., Veronica Coates, and Hatim A. Omar. "Evaluation of Stature Development During Childhood and Adolescence in Individuals with Familial Hypophosphatemic Rickets." Scientific World JOURNAL 5 (2005): 868–73. http://dx.doi.org/10.1100/tsw.2005.102.

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This review was conducted to study the diagnosis, treatment, and growth progression in infants and adolescents with familial hypophosphatemic rickets. The bibliographic search was carried out utilizing the electronic databases MEDLINE, OVID, and LILACS and by direct research within the last 15 years using the keywords rickets, familial hypophosphatemia, vitamin D deficiency, stature growth, childhood, and adolescence. Article selection was done by comparing the evaluation of the growth in patients with familial hypophosphatemic rickets, including the variables that might affect them, for possi

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9

Menezes Filho, Hamilton de, Luiz Claudio G. de Castro, and Durval Damiani. "Hypophosphatemic rickets and osteomalacia." Arquivos Brasileiros de Endocrinologia & Metabologia 50, no. 4 (2006): 802–13. http://dx.doi.org/10.1590/s0004-27302006000400025.

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The hypophosphatemic conditions that interfere in bone mineralization comprise many hereditary or acquired diseases, all of them sharing the same pathophysiologic mechanism: reduction in the phosphate reabsorption by the renal tubuli. This process leads to chronic hyperphosphaturia and hypophosphatemia, associated with inappropriately normal or low levels of calcitriol, causing osteomalacia or rickets in children and osteomalacia in adults. X-linked hypophosphatemic rickets, autosomal-dominant hypophosphatemic rickets, and tumor-induced osteomalacia are the main syndromes involved in the hypop

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10

Kartamysheva, N. N., T. V. Vashurina, O. I. Zrobok, et al. "HYPOPHOSPHATEMIC RICKETS." Pediatric pharmacology 10, no. 4 (2013): 122. http://dx.doi.org/10.15690/pf.v10i4.763.

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11

GREENE, WALTER B., and STEPHEN G. KAHLER. "Hypophosphatemic Rickets." Southern Medical Journal 78, no. 10 (1985): 1179–84. http://dx.doi.org/10.1097/00007611-198510000-00010.

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12

Jagtap, VarshaS, Vijaya Sarathi, AnuragR Lila, Tushar Bandgar, Padmavathy Menon, and NaliniS Shah. "Hypophosphatemic rickets." Indian Journal of Endocrinology and Metabolism 16, no. 2 (2012): 177. http://dx.doi.org/10.4103/2230-8210.93733.

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13

Baroncelli, Giampiero I., Benedetta Toschi, and Silvano Bertelloni. "Hypophosphatemic rickets." Current Opinion in Endocrinology & Diabetes and Obesity 19, no. 6 (2012): 460–67. http://dx.doi.org/10.1097/med.0b013e328358be97.

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14

Dennis E. Carey MD. "Hypophosphatemic rickets." Journal of Pediatrics 129, no. 1 (1996): 177–78. http://dx.doi.org/10.1016/s0022-3476(96)70220-2.

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15

Bitzan, Martin, and Paul R. Goodyer. "Hypophosphatemic Rickets." Pediatric Clinics of North America 66, no. 1 (2019): 179–207. http://dx.doi.org/10.1016/j.pcl.2018.09.004.

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16

Novais, Eduardo, and Peter M. Stevens. "Hypophosphatemic Rickets." Journal of Pediatric Orthopaedics 26, no. 2 (2006): 238–44. http://dx.doi.org/10.1097/01.bpo.0000218531.66856.b7.

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17

Kinoshita, Yuka, Tasuku Saito, Yuichiro Shimizu, et al. "Mutational analysis of patients with FGF23-related hypophosphatemic rickets." European Journal of Endocrinology 167, no. 2 (2012): 165–72. http://dx.doi.org/10.1530/eje-12-0071.

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ObjectiveX-linked hypophosphatemic rickets (XLHR) caused by mutations in the PHEX gene is considered to be the most frequent cause of fibroblast growth factor 23 (FGF23)-related congenital hypophosphatemic rickets. In previous studies, mutations in the PHEX gene were detected in 60–70% of patients with clinical diagnoses of XLHR. This leads to the question whether current screening methods for mutations in the PHEX gene are inadequate or whether there is a substantial number of patients with other genetic causes of hypophosphatemic rickets. We conducted a genetic analysis of patients with FGF2

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Chen, C., T. Carpenter, N. Steg, R. Baron, and C. Anast. "Hypercalciuric Hypophosphatemic Rickets, Mineral Balance, Bone Histomorphometry, and Therapeutic Implications of Hypercalciuria." Pediatrics 84, no. 2 (1989): 276–80. http://dx.doi.org/10.1542/peds.84.2.276.

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A 14-year-old Turkish boy had severe rickets that had been clinically evident since he was 2 years of age. When he was 5 years of age, he had normal serum calcium and phosphorus levels and increased alkaline phosphatase activity. Treatment with modest dosages of vitamin D (5000 U/d for 3 weeks) resulted in hypercalcemia. At 10 years of age, high-dose vitamin D (40 000 U/d) plus phosphorus (1.1 g/d) therapy for 20 days resulted in symptomatic nephrolithiasis. When, 14 years of age, he had normocalcemia, hypophosphatemia, increased alkaline phosphatase activity, and normal circulating parathyroi

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Kawahara, Tetsuya, Hiromi Watanabe, Risa Omae, Toshiyuki Yamamoto, and Tetsuya Inazu. "A NovelPHEXMutation in Japanese Patients with X-Linked Hypophosphatemic Rickets." Case Reports in Genetics 2015 (2015): 1–5. http://dx.doi.org/10.1155/2015/301264.

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X-linked hypophosphatemic rickets (XLH) is a dominant inherited disorder characterized by renal phosphate wasting, aberrant vitamin D metabolism, and abnormal bone mineralization. Inactivating mutations in the gene encoding phosphate-regulating gene with homologies to endopeptidases on the X chromosome (PHEX) have been found to be associated with XLH. Here, we report a 16-year-old female patient affected by hypophosphatemic rickets. We evaluated her serum fibroblast growth factor 23 (FGF23) levels and conducted sequence analysis of the disease-associated genes of FGF23-related hypophosphatemic

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Choi, Yong. "Renal Hypophosphatemic Rickets." Korean Journal of Electrolyte Metabolism 2, no. 1 (2004): 7. http://dx.doi.org/10.5049/kjem.2004.2.1.7.

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Sattur, A., VG Naikmasur, R. Shrivastava, and M. Babshet. "Familial hypophosphatemic rickets." Journal of Indian Society of Pedodontics and Preventive Dentistry 28, no. 4 (2010): 302. http://dx.doi.org/10.4103/0970-4388.76163.

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22

Vivekanandan, S. "Familial hypophosphatemic rickets." Journal of Indian Society of Pedodontics and Preventive Dentistry 29, no. 3 (2011): 278. http://dx.doi.org/10.4103/0970-4388.85842.

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23

Chan, James C. M., Uri Alon, and Gladys M. Hirschman. "Renal hypophosphatemic rickets." Journal of Pediatrics 106, no. 4 (1985): 533–44. http://dx.doi.org/10.1016/s0022-3476(85)80068-8.

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24

Tsuru, Noboru. "Renal Hypophosphatemic Rickets." American Journal of Diseases of Children 141, no. 1 (1987): 108. http://dx.doi.org/10.1001/archpedi.1987.04460010108039.

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25

Vega, Rafael A., Charles Opalak, Raymond J. Harshbarger, et al. "Hypophosphatemic rickets and craniosynostosis: a multicenter case series." Journal of Neurosurgery: Pediatrics 17, no. 6 (2016): 694–700. http://dx.doi.org/10.3171/2015.10.peds15273.

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OBJECTIVE This study examines a series of patients with hypophosphatemic rickets and craniosynostosis to characterize the clinical course and associated craniofacial anomalies. METHODS A 20-year retrospective review identified patients with hypophosphatemic rickets and secondary craniosynostosis at 3 major craniofacial centers. Parameters examined included sex, age at diagnosis of head shape anomaly, affected sutures, etiology of rickets, presenting symptoms, number and type of surgical interventions, and associated diagnoses. A review of the literature was performed to optimize treatment reco

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Michałus, Izabela, Anna Łupińska, Izabela Woch, Katarzyna Wieczorek-Szukała, Danuta Chlebna-Sokół, and Andrzej Lewiński. "Bone Turnover Markers and Bone Mineral Density in Children with Hypophosphatemic Rickets." Journal of Clinical Medicine 11, no. 15 (2022): 4622. http://dx.doi.org/10.3390/jcm11154622.

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Hypophosphatemic rickets is a rare disease that results in bone deformities. However, little is known about bone turnover and bone mass disorders in this disease. This retrospective study included 12 children aged 1–16 years diagnosed with hypophosphatemic rickets. Parameters of calcium-phosphate metabolism and bone turnover markers were analysed. Bone mineral density was assessed with the use of dual-energy X-ray absorptiometry, and indices of quantitative ultrasound examination of tibiae and radial bones were analysed. In the majority of patients, hypophosphatemia and hyperphosphaturia were

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Radlovic, Vladimir, Zeljko Smoljanic, Nedeljko Radlovic, et al. "X-linked hypophosphatemic rickets: Case report." Srpski arhiv za celokupno lekarstvo 142, no. 1-2 (2014): 75–78. http://dx.doi.org/10.2298/sarh1402075r.

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Introduction. X-linked hypophosphatemic rickets (XLHR) is a dominant inherited disease caused by isolated renal phosphate wasting and impairment of vitamin D activation. We present a girl with X-linked hypophosphatemic rickets (XLHR) as a consequence of de novo mutation in the PHEX gene. Case Outline. A 2.2-year-old girl presented with prominent lower limb rachitic deformity, waddling gait and disproportionate short stature (79 cm, <P5; -1,85 SD). On the basis of hypophosphatemia, hyperphosphaturia, high serum level of alkaline phosphatase, normal calcemia, 25(OH)D and PTH, as well as chara

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Yamazaki, Yuji, Ryo Okazaki, Minako Shibata, et al. "Increased Circulatory Level of Biologically Active Full-Length FGF-23 in Patients with Hypophosphatemic Rickets/Osteomalacia." Journal of Clinical Endocrinology & Metabolism 87, no. 11 (2002): 4957–60. http://dx.doi.org/10.1210/jc.2002-021105.

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Abstract Hypophosphatemic rickets/osteomalacia with inappropriately low serum 1,25-dihidroxyvitamin D level is commonly observed in X-linked hypophosphatemic rickets/osteomalacia, autosomal dominant hypophosphatemic rickets/osteomalacia and tumor-induced osteomalacia. Although the involvement of a newly identified factor, FGF-23, in the pathogenesis of ADHR and TIO has been suggested, clinical evidence indicating the role of FGF-23 has been lacking. We have previously shown that FGF-23 is cleaved between Arg179 and Ser180, and this processing abolished biological activity of FGF-23 to induce h

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Globa, E. V., N. B. Zelinska, T. M. Begytova, L. V. Ivanenko, and І. О. Peretyatko. "Hypophosphatemic rickets. Clinical cases." Clinical Endocrinology and Endocrine Surgery, no. 1 (April 6, 2022): 89–102. http://dx.doi.org/10.30978/cees-2022-1-89.

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Hypophosphatemic rickets (HR) is a genetically heterogeneous disease that is accompanied by hypophosphatemia, skeletal (rickets-like) disorders, growth retardation in children and adults and by damage of other organs and systems. Its incidence is 3.9 cases per 100.000 live births, and the prevalence ranges from 1.7 per 100,000 children to 4.8 per 100,000 people (children and adults). The study was aimed on the investigation of diagnostic features and treatment strategy of different HR subtypes and evaluation of the effectiveness of therapy. Three cases of patients with HR from two famili

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Koike, Megumi, Minori Uga, Yuji Shiozaki, Ken-ichi Miyamoto, and Hiroko Segawa. "Regulation of Phosphate Transporters and Novel Regulator of Phosphate Metabolism." Endocrines 4, no. 3 (2023): 607–15. http://dx.doi.org/10.3390/endocrines4030043.

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Phosphorus is essential for all living organisms. It plays an important role in maintaining biological functions, such as energy metabolism, cell membrane formation, and bone mineralization. Various factors in the intestine, kidneys, and bones regulate the homeostasis of the inorganic phosphate (Pi) concentration in the body. X-linked hypophosphatemia (XLH), the most common form of hereditary hypophosphatemic rickets, is characterized by an impaired mineralization of the bone matrix, hypertrophic chondrocytes with hypophosphatemia, and active vitamin D resistance in childhood. Phosphate-regula

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Kulikova, Kristina S., Eugeny V. Vasiliev, Vasily M. Petrov, and Anatoly N. Tiulpakov. "Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23 gene in child from Russia." World Journal of Personalized Medicine 2, no. 1 (2018): 5–9. http://dx.doi.org/10.14341/pm9661.

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Autosomal dominant hypophosphatemic rickets (ADHR) is a rare disorder characterized of renal phosphate wasting and rickets/osteomalacia. ADHR is caused by mutations in a circulating peptide, fibroblast growth factor 23 (FGF23). The clinical manifestations depend on the age of patients and the importance of hypophosphatemia. In childhood, clinical manifestations are rickets with lower extremity deformities. In adult onset, it can cause osteomalacia, osteoporosis, bone pain, tiredness. ADHR displays incomplete penetrance and variability in age of onset of clinical features. Biochemical and hormo

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Xiao, Liping, Erxia Du, Collin Homer-Bouthiette, and Marja M. Hurley. "Inhibition of FGFR Signaling Partially Rescues Hypophosphatemic Rickets in HMWFGF2 Tg Male Mice." Endocrinology 158, no. 10 (2017): 3629–46. http://dx.doi.org/10.1210/en.2016-1617.

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Abstract Transgenic mice harboring high molecular weight fibroblast growth factor (FGF)2 isoforms (HMWTg) in osteoblast lineage cells phenocopy human X-linked hypophosphatemic rickets (XLH) and Hyp murine model of XLH demonstrating increased FGF23/FGF receptor signaling and hypophosphatemic rickets. Because HMWFGF2 was upregulated in bones of Hyp mice and abnormal FGF receptor (FGFR) signaling is important in XLH, HMWTg mice were used to examine the effect of the FGFR inhibitor NVP-BGJ398, now in clinical trials for cancer therapy, on hypophosphatemic rickets. Short-term treatment with NVP-BGJ

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Saito, Tasuku, Yutaka Nishii, Toshiyuki Yasuda, et al. "Familial hypophosphatemic rickets caused by a large deletion in PHEX gene." European Journal of Endocrinology 161, no. 4 (2009): 647–51. http://dx.doi.org/10.1530/eje-09-0261.

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ContextX-linked hypophosphatemic rickets/osteomalacia (XLH), autosomal dominant and recessive hypophosphatemic rickets/osteomalacia (ADHR and ARHR) share common clinical features including high fibroblast growth factor 23 (FGF23) levels. These diseases are caused by mutations in phosphate regulating endopeptidase homolog, X-linked (PHEX), FGF23, and dentin matrix acidic phosphoprotein 1 (DMP1) gene respectively. It remains unclear whether these diseases can be clinically discriminated.ObjectiveTo clarify the underlying mechanism of patients with hypophosphatemic rickets whose parents showed no

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Lin, Xinfu, Yaobin Zhu, Jiewei Luo, and Jianbin Huang. "Genetic analysis of three families with X-linked dominant hypophosphatemic rickets." Journal of Pediatric Endocrinology and Metabolism 31, no. 7 (2018): 789–97. http://dx.doi.org/10.1515/jpem-2017-0451.

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Abstract Background Hypophosphatemic rickets, including familial hypophosphatemic vitamin D-resistant rickets, which commonly manifests in childhood, is generally hereditary. X-linked dominant hypophosphatemic rickets (XLH, MIM307800), caused by inactivating mutations in the PHEX gene, is the most common form. This study aimed to identify the gene mutations responsible for three cases of XLH and its clinical phenotype. Methods We conducted a genetic diagnosis and clinical phenotypic linkage analysis of three pedigrees with XLH. Three probands finally diagnosed as XLH were analyzed by next-gene

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Ananin, Petr V., O. V. Komarova, T. V. Vashurina, O. I. Zrobok, E. N. Tsygina, and A. N. Tsygin. "Clinical and metabolic features in childhood hypophosphatemic rickets." Russian Pediatric Journal 19, no. 4 (2019): 223–27. http://dx.doi.org/10.18821/1560-9561-2016-19-4-223-227.

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Background: Hypophosphatemic rickets is a rare disease, related to renal phosphate waste, which cause bone deformities, and lead to walking abnormalities and to the reduction in the quality of life. Clinical recommendations in different countries vary in medications, recommended doses and surgery approach. The main aim was to analyze phosphate metabolism in children with hypophosphatemic rickets and to evaluate results of conservative and surgical therapy. Methods: We analyzed medical histories of 15 children with hypophosphatemic rickets and investigated phosphate metabolism, including the me

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Aryayev, M., N. Lotysh, L. Kaplina, V. Pavlova, V. Koropets, and I. Golovenko. "CLINICAL CASE OF FAMILIAL HYPOPHOSPHATEMIC RICKETS IN A CHILD." Neonatology, Surgery and Perinatal Medicine 14, no. 3(53) (2024): 151–55. http://dx.doi.org/10.24061/2413-4260.xiv.3.53.2024.21.

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X-linked hypophosphatemic rickets is an inherited disorder caused by mutations in the PHEX gene (phosphate- regulating proteinwith homology to endopeptidases on the X chromosome). Chronic hypophosphatemia leads to impaired bone mineralization, resulting ingrowth retardation, rickets, and damage to other organs and systems, including maxillofacial abnormalities. Clinically, these manifestationsbecome signifi cant when the child begins to walk.The purpose of the study is to describe a clinical case of congenital hypophosphatemic rickets in a child.Material and methods of the study. clinical, bio

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Holm, Ingrid A., Anne E. Nelson, Bruce G. Robinson, et al. "Mutational Analysis and Genotype-Phenotype Correlation of the PHEX Gene in X-Linked Hypophosphatemic Rickets." Journal of Clinical Endocrinology & Metabolism 86, no. 8 (2001): 3889–99. http://dx.doi.org/10.1210/jcem.86.8.7761.

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PHEX is the gene defective in X-linked hypophosphatemic rickets. In this study, analysis of PHEX revealed mutations in 22 hypophosphatemic rickets patients, including 16 of 28 patients in whom all 22 PHEX exons were studied. In 13 patients, in whom no PHEX mutation had been previously detected in 17 exons, the remaining 5 PHEX exons were analyzed and mutations found in 6 patients. Twenty different mutations were identified, including 16 mutations predicted to truncate PHEX and 4 missense mutations. Phenotype analysis was performed on 31 hypophosphatemic rickets patients with PHEX mutations, in

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Kulikova, Kristina S., and Anatoly N. Tiulpakov. "Hypophosphatemic rickets: pathogenesis, diagnosis and treatment." Obesity and metabolism 15, no. 2 (2018): 46–50. http://dx.doi.org/10.14341/omet2018246-50.

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Hypophosphatemic rickets (HR) - a group of diseases characterized by the development of ricketic changes in bone tissue due to increased excretion of phosphorus from the body. This form of rickets is the most common among variants of genetically determined forms of disturbances in mineral metabolism. HR is an actual medical and social problem, requiring constant updating of knowledge of both endocrinologists and doctors of other profile. This is due to the fact that the clinical picture of HR has a significant heterogeneity and can manifest as severe deformations of the skeleton, delay in phys

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Kulikova, Kristina S., and Anatoly N. Tiulpakov. "Hypophosphatemic rickets: pathogenesis, diagnosis and treatment." Obesity and metabolism 15, no. 2 (2018): 46–50. http://dx.doi.org/10.14341/omet9672.

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Hypophosphatemic rickets (HR) - a group of diseases characterized by the development of ricketic changes in bone tissue due to increased excretion of phosphorus from the body. This form of rickets is the most common among variants of genetically determined forms of disturbances in mineral metabolism. HR is an actual medical and social problem, requiring constant updating of knowledge of both endocrinologists and doctors of other profile. This is due to the fact that the clinical picture of HR has a significant heterogeneity and can manifest as severe deformations of the skeleton, delay in phys

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Azemi, Mehmedali, Majlinda Berisha, Selim Kolgeci, Vlora IsmailiJaha, Rina Hoxha, and Teuta HoxhaKamberi. "X-linked Hypophosphatemic Rickets." Medical Archives 67, no. 3 (2013): 219. http://dx.doi.org/10.5455/medarh.2013.67.219-222.

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Hanukoglu, A., S. A. Chalew, C. J. Sun, H. D. Dorfman, and R. W. Bright. "Surgically Curable Hypophosphatemic Rickets." Clinical Pediatrics 28, no. 7 (1989): 321–25. http://dx.doi.org/10.1177/000992288902800705.

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Stickler, Gunnar B., and Bruce Z. Morgenstern. "Treatment of hypophosphatemic rickets." Journal of Pediatrics 118, no. 4 (1991): 653–54. http://dx.doi.org/10.1016/s0022-3476(05)83400-6.

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Lambert, A. S., and A. Linglart. "Hypocalcaemic and hypophosphatemic rickets." Best Practice & Research Clinical Endocrinology & Metabolism 32, no. 4 (2018): 455–76. http://dx.doi.org/10.1016/j.beem.2018.05.009.

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Bhadke, Leny E., Suryakant Y. Ingale, and Prathamesh S. Shinde. "An unusual case of familial hypophosphatemic rickets." International Journal of Contemporary Pediatrics 10, no. 3 (2023): 413–16. http://dx.doi.org/10.18203/2349-3291.ijcp20230449.

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Rickets is the failure of mineralisation of osteoid and newly formed bones in a child skeleton. It is commonly associated with vitamin D deficiency; however, it can be because of a decrease in serum phosphate level leading to inadequate mineralization of cartilage and bone, consequent skeletal deformities and growth retardation. In hypophosphatemic rickets, there are both inherited and acquired forms, where X-linked hypophosphatemic rickets (XLH) is the most prevalent genetic form and caused by mutations in the phosphate-regulating endopeptidase (PHEX) gene. XLH is associated with growth retar

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Cebrian, Jose Maria Fernandez, Enrique Colás Ruiz, Laura Vega, Santiago Linacero, Edgardo Celi, and Antonio Quintáns. "Tertiary Hyperparathyroidism Secondary to X-linked Hypophosphatemic Rickets." World Journal of Endocrine Surgery 9, no. 1 (2017): 24–26. http://dx.doi.org/10.5005/jp-journals-10002-1203.

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ABSTRACT Tertiary hyperparathyroidism is a rare complication of X-linked hypophosphatemic rickets. The surgical treatment is already unclear. How to cite this article Ruiz EC, Cebrián JMF, Vega L, Linacero S, Celi E, Quintáns A. Tertiary Hyperparathyroidism Secondary to X-linked Hypophosphatemic Rickets. World J Endoc Surg 2017;9(1):24-26.

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Roy, Mahua, K. Bose, D. K. Paul, and Puja Anand. "Hypophosphatemic Rickets: Presenting Features of Fanconi—Bickel Syndrome." Case Reports in Pathology 2011 (2011): 1–3. http://dx.doi.org/10.1155/2011/314696.

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Fanconi-Bickel Syndrome (FBS) is a rare variety of glycogen storage disease (GSD). Characterized by massive hepatomegaly due to glycogen accumulation, severe hypophosphatemic rickets, and marked growth retardation due to proximal renal tubular dysfunction. We report a young boy presented as hypophosphatemic rickets with hepatomegaly and subsequently diagnosed as FBS.

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Van Saun, Robert J., Bradford B. Smith, and Barbara J. Watrous. "Evaluation of vitamin D status of llamas and alpacas with hypophosphatemic rickets." Journal of the American Veterinary Medical Association 209, no. 6 (1996): 1128–33. http://dx.doi.org/10.2460/javma.1996.209.06.1128.

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Objective To evaluate vitamin D concentrations in juvenile llamas and alpacas with hypophosphatemic rickets. Design Prospective cohort study. Animals 21 llamas (14 with rickets, 7 clinically normal) and 9 alpacas (6 with rickets, 3 clinically normal). Procedures Blood samples were collected at the time of diagnosis and prior to the initiation of treatment. Serum concentrations of calcium, inorganic phosphorus, and 25-hydroxycholecalciferol ({vitamin Dy were determined on all samples. Comparisons were completed for disease status, age, sex, species, month of birth, and all interactions. Results

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Nishiyama, Soroku, Fumitaka Inoue, and Ichiro Matsuda. "A Single Case of Hypophosphatemic Rickets with Hypercalciuria." Journal of Pediatric Gastroenterology and Nutrition 5, no. 5 (1986): 826–29. http://dx.doi.org/10.1002/j.1536-4801.1986.tb09188.x.

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SummaryA single case of hypophosphatemic rickets with hypercalciuria and an elevated level of serum 1,25 dihydroxyvitamin D is reported. The characteristic features (genu valgum, rickets, short stature, increased renal phosphate excretion, decreased serum phosphorus level, elevated serum alkaline phosphatase level, and normal serum calcium level) were comparable to those in hypophosphatemic vitamin D resistant rickets. Massive doses of lα‐hydroxyvitamin D were not effective for the rickets and the biochemical defect in this patient. Long‐term phosphate supplementation on its own resulted in th

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Manas, F. N. U., and Barbara Mols-Kowalczewski. "PSAT228 Hereditary Hypophosphatemic Rickets: Management in Adults." Journal of the Endocrine Society 6, Supplement_1 (2022): A222. http://dx.doi.org/10.1210/jendso/bvac150.455.

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Abstract Introduction Hereditary Hypophosphatemic Rickets (HHR) is a group of rare inherited disorders consisting of X-linked hypophosphatemic rickets (XLHR, prevalence 1 in 20,000 births), autosomal dominant hypophosphatemic rickets (ADHR), and autosomal recessive hypophosphatemic rickets (ARHR). XLHR is caused by loss of function mutation of the PHEX gene, ARHR is caused by loss of function mutation of the DMP1/ENPP1 gene and ADHR is caused by activating point mutations in FGF23. These mutations result in renal phosphate wasting, hypophosphatemia, and impaired bone mineralization. It present

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Fuente, Rocío, María García-Bengoa, Ángela Fernández-Iglesias, Helena Gil-Peña, Fernando Santos, and José Manuel López. "Cellular and Molecular Alterations Underlying Abnormal Bone Growth in X-Linked Hypophosphatemia." International Journal of Molecular Sciences 23, no. 2 (2022): 934. http://dx.doi.org/10.3390/ijms23020934.

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X-linked hypophosphatemia (XLH), the most common form of hereditary hypophosphatemic rickets, is caused by inactivating mutations of the phosphate-regulating endopeptidase gene (PHEX). XLH is mainly characterized by short stature, bone deformities and rickets, while in hypophosphatemia, normal or low vitamin D levels and low renal phosphate reabsorption are the principal biochemical aspects. The cause of growth impairment in patients with XLH is not completely understood yet, thus making the study of the growth plate (GP) alterations necessary. New treatment strategies targeting FGF23 have sho

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