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Artykuły w czasopismach na temat „Renal Fanconi syndrome”

Autor: Grafiati

Data publikacji: 3 czerwca 2025

Data aktualizacji: 31 lipca 2025

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1

Papadopoulos, N. M., R. Costello, L. Charnas, M. D. Adamson, and W. A. Gahl. "Electrophoretic examination of proteinuria in Lowe's syndrome and other causes of renal tubular Fanconi syndrome." Clinical Chemistry 35, no. 11 (1989): 2231–33. http://dx.doi.org/10.1093/clinchem/35.11.2231.

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Abstract Urine samples from 26 patients with five different causes of renal tubular Fanconi syndrome were examined by zone electrophoresis on agarose gel and immunofixation. The tubular disorders associated with Lowe's syndrome, cystinosis, and idiopathic Fanconi syndrome exhibited urine protein electrophoretic characteristics that differentiated them from normal and from each other. In particular, Lowe's syndrome urine exhibited four discrete bands in the gamma globulin zone. Electrophoresis of urinary proteins may be useful in distinguishing among the different metabolic disorders causing re

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2

Garcia, Agustin A. "Ifosfamtoe-Induced Fanconi Syndrome." Annals of Pharmacotherapy 29, no. 6 (1995): 590–91. http://dx.doi.org/10.1177/106002809502900607.

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Objective: To report a case of possible ifosfamide-induced Fanconi syndrome in an adult with cancer. Case Summary: A 20-year-old man was treated for an osteosarcoma with a chemotherapy regimen that included ifosfamide, methotrexate, and doxorubicin. Three months after completing therapy he developed polyuria, polydypsia, and bilateral ankle pain. Laboratory findings showed decreased serum concentrations of phosphorus, uric acid, calcium, potassium, and bicarbonate; elevated blood urea nitrogen and creatinine; and increased urinary excretion of phosphorus, potassium, calcium, citrate, and prote

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3

Hall, A. M., P. Bass, and R. J. Unwin. "Drug-induced renal Fanconi syndrome." QJM 107, no. 4 (2013): 261–69. http://dx.doi.org/10.1093/qjmed/hct258.

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Vilasi, Annalisa, Pedro R. Cutillas, Anthony D. Maher, et al. "Combined proteomic and metabonomic studies in three genetic forms of the renal Fanconi syndrome." American Journal of Physiology-Renal Physiology 293, no. 2 (2007): F456—F467. http://dx.doi.org/10.1152/ajprenal.00095.2007.

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The renal Fanconi syndrome is a defect of proximal tubular function causing aminoaciduria and low-molecular-weight proteinuria. Dent's disease and Lowe syndrome are defined X-linked forms of Fanconi syndrome; there is also an autosomal dominant idiopathic form (ADIF), phenotypically similar to Dent's disease though its gene defect is still unknown. To assess whether their respective gene products are ultimately involved in a common reabsorptive pathway for proteins and low-molecular-mass endogenous metabolites, we compared renal Fanconi urinary proteomes and metabonomes with normal (control) u

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5

Ahn, Jin-Ok, Sang-Min Kim, Woo-Jin Song, et al. "Transient Fanconi Syndrome After Treatment with Firocoxib, Cefadroxil, Tramadol, and Famotidine in a Maltese." Journal of the American Animal Hospital Association 55, no. 6 (2019): 323–27. http://dx.doi.org/10.5326/jaaha-ms-6786.

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ABSTRACT Fanconi syndrome is a renal proximal tubulopathy characterized by excessive urinary loss of glucose, amino acids, several electrolytes, and bicarbonate. Here, we report the case of transient Fanconi syndrome in a dog following administration of firocoxib, cefadroxil, tramadol, and famotidine. A 10 mo old Maltese was presented with lethargy, anorexia, vomiting, and weight loss. Transient Fanconi syndrome without azotemia was associated with firocoxib, cefadroxil, tramadol, and famotidine treatment. The dog received supportive care including IV fluids, gastroprotectants, and oral nutrit

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6

Bommer, Nick X., Serena E. Brownlie, Linda R. Morrison, Marge L. Chandler, and James W. Simpson. "Fanconi Syndrome in Irish Wolfhound Siblings." Journal of the American Animal Hospital Association 54, no. 3 (2018): 173–78. http://dx.doi.org/10.5326/jaaha-ms-6439.

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ABSTRACT Three juvenile male Irish wolfhound littermates presented with marked polyuria and polydipsia. The four female siblings were apparently unaffected. Diagnostic testing revealed glucosuria with normoglycemia, generalized aminoaciduria, hypokalemia and metabolic acidosis consistent with Fanconi syndrome. Renal ultrasonographic and histologic findings are presented. Cases were managed with a supplementation regimen based on a treatment protocol for Fanconi syndrome in basenjis. These dogs did not have angular limb deformities as documented previously in juvenile canine siblings with Fanco

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7

Sabrina, Lissa, and Sidharta Salim. "Fanconi Syndrome and Osteomalacia Induced by Tenofovir." Cermin Dunia Kedokteran 51, no. 4 (2024): 207–9. http://dx.doi.org/10.55175/cdk.v51i4.875.

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Introduction: Tenofovir disoproxil fumarate (TDF), an antiviral nucleoside analog reverse transcriptase inhibitor, has been used for the treatment of HIV and HBV in the past decades. TDF nephrotoxicity has been reported and could lead to renal failure and Fanconi Syndrome (FS). Case: A 58-year-old female HBsAg carrier with TDF treatment since 2013 presented with osteomalacia. She had glucosuria, albuminuria, vitamin D insufficiency, hypophosphatemia, and occasional hypokalemia episodes. Laboratory results showed amino aciduria, which indicates renal tubulopathy. The diagnosis of Fanconi syndro

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8

Gou, Manting, and Zhongshu Ma. "Osteomalacia, renal Fanconi syndrome, and bone tumor." Journal of International Medical Research 46, no. 8 (2018): 3487–90. http://dx.doi.org/10.1177/0300060518763708.

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We herein report two cases of Fanconi syndrome with refractory hypophosphatemic osteomalacia that was difficult to correct by phosphorus replacement therapy. The pathological result was a bony giant cell tumor and osteosarcoma, respectively. Interestingly, after resection of the tumors, the patient with osteosarcoma recovered completely but the patient with the bony giant cell tumor had a relapse. Although she underwent nine operations, her symptoms and laboratory tests did not improve. These findings indicate that Fanconi syndrome can result from a bone tumor.

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9

Watanabe, Toru. "Renal Fanconi syndrome in distal renal tubular acidosis." Pediatric Nephrology 32, no. 6 (2017): 1093. http://dx.doi.org/10.1007/s00467-017-3638-z.

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10

Tolaymat, A., A. Sakarcan, and R. Neiberger. "Idiopathic Fanconi syndrome in a family. Part I. Clinical aspects." Journal of the American Society of Nephrology 2, no. 8 (1992): 1310–17. http://dx.doi.org/10.1681/asn.v281310.

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Fanconi syndrome is a rare cause of rickets in children. Only six families with Fanconi syndrome following an autosomal dominant pattern of inheritance have been reported. In this report, the results of clinical studies performed in three generations of a family of 39 members with autosomal dominant Fanconi syndrome are presented. Twenty-one members of this family provided blood and urine for biochemical evaluation. Many family members have one or more tubular reabsorptive abnormalities; however, the complete Fanconi syndrome was not present in most members. Three children with the complete sy

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11

Papizh, Svetlana V., Anastasiia V. Topchii, and Tatiana A. Nikishina. "Renotubular Fanconi syndrome type 1 in children: a case series." Pediatrics. Consilium Medicum 1, no. 1 (2025): 32–37. https://doi.org/10.26442/26586630.2025.1.203094.

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Renal Fanconi syndrome is a generalized disorder of the proximal convoluted tubule, characterized by non-selective aminoaciduria, glucosuria, low molecular weight proteinuria, phosphaturia, loss of bicarbonates, electrolytes and many other substances. Autosomal dominant Fanconi renotubular syndromes due to a GATM missense-variant, encodes mitochondrial enzyme arginine-glycine amidinotransferase. In total, 36 cases of genetically confirmed Fanconi renotubular syndrome, type 1 have been reported to date from 10 families. In this article, we present the first Russian cases of two unrelated patien

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12

Mita, Kanako, Shunsuke Takahashi, Satoshi Yanagida, et al. "Two Cases of Chronic Tubular Necrosis Presenting as Fanconi Syndrome Induced by Red Yeast Rice Choleste-Help." Diagnostics 15, no. 13 (2025): 1722. https://doi.org/10.3390/diagnostics15131722.

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Background and Clinical Significance: Although dietary supplements have often been deemed safe, some have been linked to drug-induced nephropathy due to their diverse ingredients. The aim of this report is to enhance clinical awareness of a novel and emerging cause of Fanconi syndrome due to red yeast rice supplements and to contribute new histopathological and clinical data. Case Presentation: We report two cases of renal dysfunction and Fanconi syndrome associated with the use of red yeast rice supplements. Both patients presented with renal impairment accompanied by elevated markers of tubu

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13

Kumarasamy, Chellarani, Aniruddha Agarwal, and Ricardo Valjalo. "Bilateral anterior uveitis associated with Fanconi syndrome and tubulointerstitial nephritis: A case report and review of literature." Indian Journal of Ophthalmology - Case Reports 5, no. 1 (2025): 49–53. https://doi.org/10.4103/ijo.ijo_1838_24.

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Tubulointerstitial nephritis and uveitis (TINU) syndrome is a rare inflammatory disease affecting the renal tubules and uveal tract. Although the etiology of TINU remains uncertain, it has been associated with multiple immunologic conditions and human leucocyte antigen (HLA) association. We report a case of 55-year-old healthy female who was diagnosed with Fanconi syndrome and later developed bilateral uveitis. While the initial renal biopsy-pathology report misled the nephrologist to an end-stage renal disease and initiation of hemodialysis, later development of bilateral anterior uveitis mad

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14

Wyss, Peter A., Sandra B. Boynton, Judith Chu, Robert F. Spencer, and Karl S. Roth. "Physiological basis for an animal model of the renal Fanconi syndrome: use of succinylacetone in the rat." Clinical Science 83, no. 1 (1992): 81–87. http://dx.doi.org/10.1042/cs0830081.

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1. The biochemical basis for the human renal Fanconi syndrome, including glucosuria, phosphaturia and aminoaciduria, remains enigmatic. This is due, in part, to the lack of an appropriate animal model. Since there is an association between the human genetic disease hereditary tyrosinaemia, for which urinary excretion of the compound succinylacetone constitutes a biochemical marker, and a renal Fanconi syndrome, we have examined the relationship between succinylacetone and renal tubular function in the rat. 2. Intraperitoneal injection of succinylacetone for 3 consecutive days into adult male S

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15

Furman, E., J. Leidinger, D. Brandstetter, et al. "Transient renal Fanconi syndrome in a Chihuahua exposed to Chinese chicken jerky treats." Tierärztliche Praxis Ausgabe K: Kleintiere / Heimtiere 43, no. 03 (2015): 188–92. http://dx.doi.org/10.15654/tpk-140841.

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SummaryTransient Fanconi syndrome without azotemia was diagnosed in a dog and was associated with ingestion of Chinese chicken jerky treats. Fanconi syndrome is a proximal renal tubular defect and a diagnosis was made based upon severe glucosuria with normoglycemia, and severe generalized aminoaciduria. The clinical signs of polyuria and polydipsia as well as the massive urinary metabolic abnormalities resolved after jerky treat withdrawal. While frequently seen in North America and Australia, this is the first report of jerky treat induced Fanconi syndrome in continental Europe. Clinicians sh

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16

Patel, Janvi, and Farzana Hoque. "Ifosfamide-Induced Fanconi Syndrome: A Rare but Recognized Complication." Bangladesh Journal of Medicine 35, no. 3 (2024): 200–203. http://dx.doi.org/10.3329/bjm.v53i3.74811.

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Ifosfamide is an alkylating chemotherapeutic agent that was approved for medical use in the United States in 1987. It is frequently prescribed either alone or in combination with other agents to treat a variety of cancers, such as sarcomas, lymphomas, and lung cancers. It has increasingly been associated with the development of acquired Fanconi Syndrome. Fanconi Syndrome is characterized by the dysfunction of the proximal renal tubule, leading to the inability to reabsorb essential nutrients and electrolytes from the urine. This causes a wide range of abnormalities in electrolyte levels which

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17

Foreman, John W., and Karl S. Roth. "Human Renal Fanconi Syndrome – Then and Now." Nephron 51, no. 3 (1989): 301–6. http://dx.doi.org/10.1159/000185313.

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Unwin, R. J. "The renal Fanconi syndrome: Causes and consequences." Toxicology Letters 259 (October 2016): S12. http://dx.doi.org/10.1016/j.toxlet.2016.07.062.

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Oktenli, Cagatay, Mutlu Saglam, Emre Zafer, and Davut Gül. "Saethre-Chotzen Syndrome Presenting with Incomplete Renal Fanconi Syndrome." Nephron 92, no. 2 (2002): 463–65. http://dx.doi.org/10.1159/000063292.

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Yoshida, Tatsunori, Hiroshi Tsujimoto, Takayuki Ichikawa, Shinji Kounami, and Hiroyuki Suzuki. "Acute Lymphoblastic Leukemia Presenting as Fanconi Syndrome." Case Reports in Oncology 11, no. 1 (2018): 63–67. http://dx.doi.org/10.1159/000486364.

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Acute lymphoblastic leukemia (ALL) presenting as Fanconi syndrome (FS) is extremely rare. Here, we report a case of ALL presenting as bilateral nephromegaly following FS. A 2-year-old girl was unexpectedly diagnosed with bilateral nephromegaly. After 2 weeks, she developed general fatigue, thirst, and polyuria. Laboratory examinations revealed renal tubular acidosis, hypokalemia, hypophosphatemia, and aminoaciduria, and FS was diagnosed. Replacement of bicarbonate and potassium did not improve her condition. Two weeks after the onset of FS, leukemic cells appeared on a peripheral blood smear,

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21

Liatsou, Efstathia, Ioanna Tatouli, Andreas Mpozikas, et al. "Tenofovir-Induced Fanconi Syndrome Presenting with Life-Threatening Hypokalemia: Review of the Literature and Recommendations for Early Detection." Journal of Clinical Medicine 12, no. 22 (2023): 7178. http://dx.doi.org/10.3390/jcm12227178.

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Tenofovir disoproxil fumarate (TDF) is a nucleotide reverse transcriptase inhibitor that has been widely used for the treatment of patients with human immunodeficiency virus (HIV) and hepatitis B virus (HBV) infections. Despite the excellent safety records of this regimen, a few cases of acute renal failure and Fanconi syndrome have been reported among HIV patients exposed to TDF. However, in the HBV monoinfection scenario, only five cases of TDF-associated Fanconi syndrome have been reported thus far, two of them providing a confirmatory kidney biopsy. Here, we describe the case of a 68-year-

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22

Staltari, Orietta, Benedetto Caroleo, Andzelika Michniewicz, Giovambattista De Sarro, Franco Perticone, and Luca Gallelli. "Adefovir dipivoxil-induced development of osteomalacia and Fanconi syndrome during the treatment of hepatitis B virus (HBV)-related cirrhosis." Clinical Management Issues 8, no. 4 (2014): 109–14. http://dx.doi.org/10.7175/cmi.v8i4.969.

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Adefovir dipivoxil is a nucleotide analog reverse transcriptase inhibitor used to treat adult patients affected by HBeAg-positive and HBeAg-negative chronic hepatitis B and with clinical evidence of lamivudine-resistant hepatitis B virus (HBV). Adefovir administered at a dosage of 10 mg/day is generally well tolerated, even if renal toxicity, type Fanconi syndrome, was reported during long-term treatments.We report a case of osteomalacia with Fanconi syndrome and pathologic fracture of the femur related to long-time (67 months) adefovir treatment (10 mg/day) in a patient with compensated hepat

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Jiang, Shirley X., John Duncan, and Hin Hin Ko. "Acquired Fanconi Syndrome from Tenofovir Treatment in a Patient with Hepatitis B." Case Reports in Hepatology 2023 (June 17, 2023): 1–3. http://dx.doi.org/10.1155/2023/6158407.

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Fanconi syndrome is a rare disease of generalized proximal tubule dysfunction which can be acquired secondary to certain medications, including tenofovir, a commonly used hepatitis B treatment. Signs and symptoms of ensuing renal wasting can be severe but vague, leading to potentially avoidable invasive investigations and delays in diagnosis. We present a case of a 62-year-old female with chronic hepatitis B on tenofovir treatment who was found to have subacute weakness, anorexia, and weight loss. She underwent extensive investigations including computed tomography (CT) imaging, bronchoscopy,

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Hanquinet, Sylviane, Michael Wouters, Christine Devalck, Noemie Perlmutter, and Eric Sariban. "Increased renal parenchymal echogenicity in ifosfamide-induced renal fanconi syndrome." Medical and Pediatric Oncology 24, no. 2 (1995): 116–18. http://dx.doi.org/10.1002/mpo.2950240211.

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DK, Gayathri, Subashini R, Shanthi V, and Badrulnizam LB. "BRITTLE BONES AND LEAKING PHOSPHATE." Journal of the ASEAN Federation of Endocrine Societies 34 (July 17, 2019): 41. https://doi.org/10.15605/jafes.034.s67.

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INTRODUCTIONFanconi syndrome is an established cause for low bone mineral density (BMD). Confirmed cases of acquired Fanconi syndrome due to tenofovir have been reported worldwide. The mean duration of therapy with tenofovir before the development of Fanconi syndrome is reported to be 11 months. The implicated agent was discontinued in all cases after which renal function tests and electrolytes normalised. We present a case of acquired Fanconi syndrome following tenofovir use. CASEA 57-year-old male with Hepatitis B infection who had been on tenofovir for 5 years presented with a low impact ca

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Philip, Prijo, and Chinthu Sara Jacob. "Proximal renal tubular acidosis with primary Fanconi syndrome." International Journal of Contemporary Pediatrics 5, no. 3 (2018): 1131. http://dx.doi.org/10.18203/2349-3291.ijcp20181556.

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Renal tubular acidosis (RTA) is associated with normal or near normal glomerular filtration rate. Proximal RTA is associated with impaired bicarbonate reabsorption. This is manifested as bicarbonate wastage in the urine, and this reflects the defect in proximal tubular transport. Osteopenia or full-blown rickets may develop. Type 2 RTA is rare and occurs in association with conditions such as Fanconi syndrome. This is manifested as glycosuria, aminoaciduria, phosphate wasting and mild proteinuria. The basis of therapy is the continuous administration of appropriate amounts of alkali in the for

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Soo, Euan, EugeneYu-Hin Chan, YuetPing Yuen, and AlisonLap-Tak Ma. "Nephropathic cystinosis: A cause of renal fanconi syndrome." Asian Journal of Pediatric Nephrology 3, no. 1 (2020): 28. http://dx.doi.org/10.4103/ajpn.ajpn_8_20.

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Park, Dae Jin, Ki-Seok Jang, and Gheun-Ho Kim. "Adult Idiopathic Renal Fanconi Syndrome: A Case Report." Electrolytes & Blood Pressure 16, no. 2 (2018): 19. http://dx.doi.org/10.5049/ebp.2018.16.2.19.

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Christopher, Rita, and K. Taranath Shetty. "Drug-induced renal Fanconi syndrome: A case report." Indian Journal of Clinical Biochemistry 11, no. 1 (1996): 81–84. http://dx.doi.org/10.1007/bf02868421.

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Rifkin, Brian S., and Mark A. Perazella. "Tenofovir-associated nephrotoxicity: Fanconi syndrome and renal failure." American Journal of Medicine 117, no. 4 (2004): 282–84. http://dx.doi.org/10.1016/j.amjmed.2004.03.025.

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Watanabe, Toru, Hideto Yoshikawa, Sawako Yamazaki, Yuki Abe, and Tokinari Abe. "Secondary renal Fanconi syndrome caused by valproate therapy." Pediatric Nephrology 20, no. 6 (2005): 814–17. http://dx.doi.org/10.1007/s00467-005-1827-7.

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Naik, Manjiri R., Shubham M. Patel, Parth G. Maindarkar, and Shamisha S. Khade. "An acquired Bartter syndrome with secondary Sjögren syndrome." International Journal of Research in Medical Sciences 11, no. 10 (2023): 3872–75. http://dx.doi.org/10.18203/2320-6012.ijrms20233050.

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Renal tubular involvement in Sjögren's syndrome (SS) often described with renal tubular acidosis, nephrogenic diabetes insipidus, or rarely with Fanconi syndrome. SS presenting with clinical features of Bartter's syndrome or Gitelman's syndrome is rare. We report a case of a female patient who presented an acquired Bartter syndrome with a secondary SS. Our case highlights the fact that hypokalemia with metabolic alkalosis in an adult patient should prompt clinicians to look for common and uncommon conditions. While assessing for abnormal conditions, acquired Bartter syndrome should be consider

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Reichold, Markus, Enriko D. Klootwijk, Joerg Reinders, et al. "Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure." Journal of the American Society of Nephrology 29, no. 7 (2018): 1849–58. http://dx.doi.org/10.1681/asn.2017111179.

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Background For many patients with kidney failure, the cause and underlying defect remain unknown. Here, we describe a novel mechanism of a genetic order characterized by renal Fanconi syndrome and kidney failure.Methods We clinically and genetically characterized members of five families with autosomal dominant renal Fanconi syndrome and kidney failure. We performed genome-wide linkage analysis, sequencing, and expression studies in kidney biopsy specimens and renal cells along with knockout mouse studies and evaluations of mitochondrial morphology and function. Structural studies examined the

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Singer, Pamela, Christine B. Sethna, Laura Castellanos-Reyes, Oksana Yaskiv, and Vanesa Bijol. "Kidney Biopsy Findings in a Patient With Valproic Acid-Associated Fanconi Syndrome." Pediatric and Developmental Pathology 22, no. 4 (2018): 370–74. http://dx.doi.org/10.1177/1093526618819334.

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A 7-year-old boy with a history of febrile illness-related epilepsy syndrome presented with proteinuria and elevated creatinine. His severe epileptic disorder has been treated since age 2 with multiple antiepileptic medications, including valproic acid. More recently, he was noted to have features of Fanconi syndrome with acidosis, hypophosphatemia, hypokalemia, glucosuria, and nephrotic-range proteinuria. This was managed with supplements; however, in the setting of rising creatinine and prominent proteinuria, a kidney biopsy was performed. Renal cortex revealed markedly decreased expression

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Li, Ting, Zhihong Lu, Jingjing Wang, Junyi Chen, Haidong Fu, and Jianhua Mao. "Growth Retardation in the Course of Fanconi Syndrome Caused by the 4977-bp Mitochondrial DNA Deletion: A Case Report." Children 8, no. 10 (2021): 887. http://dx.doi.org/10.3390/children8100887.

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Fanconi syndrome is one of the primary renal manifestations of mitochondrial cytopathies caused by mitochondrial DNA (mtDNA) mutation. The common 4977-bp mtDNA deletion has been reported to be associated with aging and diseases involving multiple extrarenal organs. Cases of Fanconi syndrome caused by the 4977-bp deletion were rarely reported previously. Here, we report a 6-year-old girl with growth retardation in the course of Fanconi syndrome. She had mild ptosis and pigmented retinopathy. Abnormal biochemical findings included low-molecular-weight proteinuria, normoglycemic glycosuria, incre

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Er, Chaoxui, Jessica Dyson, David Jones, and John Sayer. "Primary biliary cholangitis presenting with Fanconi syndrome: an important phenotype." BMJ Case Reports 15, no. 8 (2022): e248461. http://dx.doi.org/10.1136/bcr-2021-248461.

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A woman in her 50s was referred to nephrology clinic due to progressive chronic kidney disease. She exhibited features of proximal renal tubulopathy, namely Fanconi syndrome, including normoglycaemic glycosuria, normal anion gap metabolic acidosis, and intermittent hypouricaemia and hypophosphataemia. Kidney biopsy showed tubulointerstitial inflammation and focal chronic damage. In addition, antimitochondrial antibodies were present and she had abnormal liver blood tests. A unifying diagnosis of primary biliary cholangitis with an associated renal tubulopathy and interstitial nephritis was mad

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Dutta, Pradip Kumar, Syed Md Jabed, Md Abul Kashem, Saibal Das, and Md Nurul Huda. "Wilson’s Disease Presenting With Haematuria and Swelling." Journal of Chittagong Medical College Teachers' Association 23, no. 1 (2012): 51–52. http://dx.doi.org/10.3329/jcmcta.v23i1.51897.

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Wilson’s disease gene located in Chromosime 3 is also expressed in Kidneys. So Wilson’s disease may have renal manifestations either as primary even or secondarily as Hepato renal syndrome. Patients commonly manifest as Fanconi syndrome or Urolithiasis. Haematuria and proteinuria is a rare manifestation. Here we are presenting a case who initially presented with haematuria and proteinuria (Acute nephritic syndrome) which masked features of Wilson’s disease and late diagnosis. JCMCTA 2012; 23(1): 51-52

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An, JH, KB Kim, SC Kwon, et al. "Canine adipose tissue-derived mesenchymal stem cell therapy in a dog with renal Fanconi syndrome." Veterinární Medicína 67, No. 4 (2022): 206–11. http://dx.doi.org/10.17221/213/2020-vetmed.

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Renal Fanconi syndrome (RFS) affects the proximal tubular resorption in the nephrons. This causes excessive loss of key solutes through the urine. In a canine patient, we successfully managed the renal tubular acidosis and proteinuria caused by RFS via transplantation of canine adipose tissue-derived mesenchymal stem cells (cAT-MSCs). cAT-MSCs were administered ten times at intervals of 2–4 weeks. The post-therapy check-up revealed that the cAT-MSC treatment improved the renal tubular acidosis and proteinuria. Hence, a cAT-MSC transplant may be considered as an adjuvant therapy in veterinary m

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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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Walsh, Stephen Benedict, Robert Unwin, Robert Kleta, et al. "Fainting Fanconi syndrome clarified by proxy: a case report." BMC Nephrology 18, no. 1 (2017): 230. https://doi.org/10.1186/s12882-017-0649-8.

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<strong>Background: </strong>Rare diseases may elude diagnosis due to unfamiliarity of the treating physicians with the specific disorder. Yet, advances in genetics have tremendously enhanced our ability to establish specific and sometimes surprising diagnoses.<strong>Case presentation: </strong>We report a case of renal Fanconi syndrome associated with intermittent hypoglycemic episodes, the specific cause for which remained elusive for over 30 years, despite numerous investigations, including three kidney and one liver biopsy. The most recent kidney biopsy showed dysmorphic mitochondria, sug

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Norden, Anthony G. W., Marta Lapsley, Takashi Igarashi, et al. "Urinary Megalin Deficiency Implicates Abnormal Tubular Endocytic Function in Fanconi Syndrome." Journal of the American Society of Nephrology 13, no. 1 (2002): 125–33. http://dx.doi.org/10.1681/asn.v131125.

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ABSTRACT. Normal reabsorption of glomerular filtrate proteins probably requires recycling of the endocytic receptors megalin (gp330) and cubilin. Both receptors are located on the luminal surface of the renal proximal tubule epithelium. Whether abnormal amounts of receptor are present in the urine of patients with Dent’s disease, Lowe’s syndrome, or autosomal dominant idiopathic Fanconi syndrome was explored. They are all forms of the renal Fanconi syndrome and are associated with tubular proteinuria. Urine samples of equal creatinine contents were dialyzed, lyophilized, and subjected to elect

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Ria, Roberto, Franco Dammacco, and Angelo Vacca. "HEAVY-CHAIN DISEASES AND MYELOMA-ASSOCIATED FANCONI SYNDROME: AN UPDATE." Mediterranean Journal of Hematology and Infectious Diseases 10, no. 1 (2018): 2018011. http://dx.doi.org/10.4084/mjhid.2018.011.

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The heavy chain diseases (HCDs) are rare B-cell malignancies characterized by the production of a monoclonal immunoglobulin heavy chain without an associated light chain. There are three types of HCD, defined by the class of immunoglobulin heavy chain produced: IgA (α-HCD), IgG (γ-HCD), and IgM (μ-HCD). Alpha-HCD is the most common and usually occurs as intestinal malabsorption in a young adult from a country of the Mediterranean area. Gamma- and μ-HCDs are more rare and associated to a B-cell non-Hodgkin lymphoma that produces an abnormal Ig heavy chain. These patients may occasionally be dia

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Samad, Sameer, Aparna Balachandran, Rahul Nalayadam, and Sajith Narayanan. "Tenofovir disoproxil fumarate-related toxicity: A case of Fanconi syndrome." Journal of Microbiology and Infectious Diseases 13, no. 4 (2023): 196. http://dx.doi.org/10.5455/jmid.2023.v13.i4.5.

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Background: Tenofovir-based regimens remain the first choice for the treatment of human immunodeficiency virus infection and hepatitis B infection. Despite its virologic efficacy and ease of administration, it can lead to significant nephrotoxicity which may not be fully reversible. Case Description: An elderly gentleman on Tenofovir disoproxil fumarate (TDF)-based antiretroviral therapy for 10 years presented with vague symptoms of fatigue, poor oral intake and constipation. He was found to have hypokalemia and a volume depleted status. Detailed evaluation revealed hyperchloremic metabolic ac

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Nakajima, Shigeo, Nobuhiko Shimidzu, Haruhiko Hirai, et al. "Renal Complications in Two Patients with Fanconi-Bickel Syndrome." Nihon Shoni Jinzobyo Gakkai Zasshi 12, no. 2 (1999): 131–34. http://dx.doi.org/10.3165/jjpn.12.131.

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Kashoor, Ibrahim, and Daniel Batlle. "Proximal renal tubular acidosis with and without Fanconi syndrome." Kidney Research and Clinical Practice 38, no. 3 (2019): 267–81. http://dx.doi.org/10.23876/j.krcp.19.056.

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Norden, A. G. W., R. J. C. Laing, P. Rowe, R. J. Unwin, O. Wrong, and A. J. Crisp. "Oncogenic osteomalacia, raised FGF-23, and renal Fanconi syndrome." QJM 107, no. 2 (2011): 139–41. http://dx.doi.org/10.1093/qjmed/hcr247.

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Drube, J., E. Schiffer, H. Mischak, et al. "Urinary proteome pattern in children with renal Fanconi syndrome." Nephrology Dialysis Transplantation 24, no. 7 (2009): 2161–69. http://dx.doi.org/10.1093/ndt/gfp063.

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Grange, S., D. M. Bertrand, D. Guerrot, F. Eas, and M. Godin. "Acute renal failure and Fanconi syndrome due to deferasirox." Nephrology Dialysis Transplantation 25, no. 7 (2010): 2376–78. http://dx.doi.org/10.1093/ndt/gfq224.

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Berry, Gerard T., Lester Baker, Frederick S. Kaplan, and Camillus L. Witzleben. "Diabetes-like renal glomerular disease in Fanconi-Bickel syndrome." Pediatric Nephrology 9, no. 3 (1995): 287–91. http://dx.doi.org/10.1007/bf02254185.

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El Hamel, C., A. Thierry, P. Trouillas, et al. "Crystal-storing histiocytosis with renal Fanconi syndrome: pathological and molecular characteristics compared with classical myeloma-associated Fanconi syndrome." Nephrology Dialysis Transplantation 25, no. 9 (2010): 2982–90. http://dx.doi.org/10.1093/ndt/gfq129.

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