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Journal articles on the topic 'Alport, Syndrome d' – Physiopathologie'

Author: Grafiati

Published: 16 November 2024

Last updated: 31 July 2025

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1

Gerasimovska Kitanovska, Biljana, Vesna Gerasimovska, and Vesna Livrinova. "Two Pregnancies with a Different Outcome in a Patient with Alport Syndrome." Open Access Macedonian Journal of Medical Sciences 4, no. 3 (2016): 439–42. http://dx.doi.org/10.3889/oamjms.2016.073.

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BACKGROUND: Alport syndrome is a genetic disease that progresses to chronic kidney failure, with X-linked, autosomal dominant or autosomal recessive type of inheritance. Women are generally carriers of the mutation and have a milder form of the disease. During pregnancy, they have an increased risk of impaired kidney function and preeclampsia.CASE PRESENTATION: A 27-year old woman, gravida 1, para 0, in her 23rd gestational week came to the outpatient unit of the University Clinic of Nephrology for the first time because of slowly progressing proteinuria and Alport syndrome. She was admitted t

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2

Sharma, Chewan Acharya, and Elijan Duwal. "Unusual refractive anomaly in Alport syndrome with lenticonus: A challenging case." Indian Journal of Ophthalmology - Case Reports 4, no. 1 (2024): 93–94. http://dx.doi.org/10.4103/ijo.ijo_2548_23.

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Herein, we report a 15-year-old male with Alport syndrome, exhibiting hemorrhagic nephritis, hearing loss, and a 1-year history of poor distance visual acuity. Slit-lamp examination revealed bilateral anterior lenticonus, with unremarkable findings in other ocular structures. Unusual reflex movements were observed during retinoscopy, characterized by distinct central and annular reflexes yielding objectively an intraeye discrepancy of 12 D. Similar to the objective findings, a pair of subjective findings for each eye was obtained and each pair resulted almost equal visual acuity. However, smal

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3

Lubec, Barbara, and Klaus Arbeiter. "Determination of the urinary d/l trans-3-hydroxyprolineratio: A noninvasive screening test for Alport syndrome." Journal of Pediatrics 123, no. 5 (1993): 748–51. http://dx.doi.org/10.1016/s0022-3476(05)80852-2.

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4

Ducki, Czesław, Marta Wojtkiewicz, Marcin Bartoszewicz, and Piotr Fiedor. "The Role of Vitamin D in Rare Diseases—A Clinical Review." Biomedicines 13, no. 3 (2025): 558. https://doi.org/10.3390/biomedicines13030558.

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Background/Objectives: Patients suffering from rare diseases are particularly vulnerable to vitamin D deficiency. The role of vitamin D status in rare disease management remains insufficiently investigated and employed in routine clinical practice. Methods: This review analyses current data on vitamin D status in selected rare diseases of organs involved in vitamin D metabolism: skin (epidermolysis bullosa, morphea), liver (autoimmune hepatitis, primary biliary cholangitis, primary sclerosing cholangitis), kidney (Alport syndrome, Fabry disease), and cystic fibrosis as a model of a systemic ra

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5

Tabti, F., M. El Harrak, Z. Lahlafi, et al. "LA CARDIOMYOPATHIE NEUROGENE APRES UN ACCIDENT VASCULAIRE CEREBRAL ISCHEMIQUE: A PARTIR D UN CAS ET REVUE DE LITTERATURE." International Journal of Advanced Research 11, no. 04 (2023): 1222–28. http://dx.doi.org/10.21474/ijar01/16785.

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La cardiomyopathie neurogene (CN) correspond a une sideration myocardique etendue, sans rapport avec un territoire coronarien, secondaire a une lesion neurologique et resultant dun desequilibre du systeme nerveux autonome.Le spectre danomalies cardiaques observees comprend des modifications electriques, une elevation du taux de troponine, une dysfonction ventriculaire, et des troubles de la cinetique, mimant un infarctus du myocarde mais a la coronarographie le reseau coronaire est normal ou discretement atheromateux sans stenose significative et sans aspect thrombotique.Il sagit dune cardiomy

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6

Gao, Xiaoli, Meilu Li, Kan Wang, Zengyan Li, and Cha Han. "Pregnancy in women with autosomal recessive Alport syndrome caused by novel compound heterozygous mutations of COL4A3 gene: Two cases reports." Medicine 102, no. 46 (2023): e36057. http://dx.doi.org/10.1097/md.0000000000036057.

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Rationale: Autosomal recessive Alport syndrome (ARAS) is an hereditary heterogeneous disease that poses a serious risk to pregnant women. Patient concerns: We reported 2 cases of pregnancy with progressive proteinuria. The case 1 was a 21-year-old woman with 24-h proteinuria increased from 2.03 to 11.72 g at 13 to 35 weeks of gestation, and the case 2 was a 28-year-old woman with 24-h proteinuria increased from 2.10 to 9.32 g at 8 to 36 weeks of gestation. In advanced stage of pregnancy, the fetal development was smaller than the gestational age. Diagnoses: Sanger sequencing showed that novel

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7

Bhate, Manjushree, Divya Motwani, Somasheila I. Murthy, and Merle Fernandes. "Congenital anomalies of lens shape." Taiwan Journal of Ophthalmology 13, no. 4 (2023): 479–88. http://dx.doi.org/10.4103/tjo.tjo-d-23-00076.

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The crystalline lens is an important structure in the eye that starts to develop as early as the 22nd day of gestation, with further differentiation that continues after the induction. Congenital anomalies of the lens may involve the size, shape, and position of the lens. They may sometimes be associated with anterior segment dysgenesis or persistence of the tunica vasculosa lentis and hyperplastic vitreous and hyaloid system. Manifestations of anomalies of the lens shape are usually seen in early or late childhood however may sometimes be delayed into adulthood based on the level of visual im

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8

Miyata, Kana N., Denise M. Smith, Michifumi Yamashita, et al. "Dapagliflozin in addition to Ramipril Ameliorates Kidney Disease Progression in Mice with Alport Syndrome." American Journal of Physiology-Renal Physiology, June 11, 2025. https://doi.org/10.1152/ajprenal.00130.2025.

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Renin-angiotensin-aldosterone system inhibitors (RAASi) have been the most extensively studied treatment for Alport syndrome, demonstrating established benefits for renal function and survival in both animals and humans. Sodium-glucose cotransporter-2 inhibitors (SGLT2i) slow chronic kidney disease progression, but their renoprotective mechanisms in non-diabetic glomerular diseases remain unclear. Here, we investigated whether combining dapagliflozin (an SGLT2i) with ramipril (an angiotensin-converting enzyme Inhibitor) enhances kidney protection compared to ramipril alone in Col4α3 knockout (

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9

Chavez, Efren, Juanly Rodriguez, Yelena Drexler, and Alessia Fornoni. "Novel Therapies for Alport Syndrome." Frontiers in Medicine 9 (April 25, 2022). http://dx.doi.org/10.3389/fmed.2022.848389.

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Alport syndrome (AS) is a hereditary kidney disease associated with proteinuria, hematuria and progressive kidney failure. It is characterized by a defective glomerular basement membrane caused by mutations in type IV collagen genes COL4A3/A4/A5 which result in defective type IV collagen α3, α4, or α5 chains, respectively. Alport syndrome has three different patterns of inheritance: X-linked, autosomal and digenic. In a study of CKD of unknown etiology type IV collagen gene mutations accounted for the majority of the cases of hereditary glomerulopathies which suggests that AS is often underrec

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10

Alexandre HERTIG. "Prééclampsie : la piste d’ un défaut de la stéroïdogenèse." REPRODUCTION HUMAINE ET HORMONES 26, no. 02 (2013). http://dx.doi.org/10.54695/rhh.26.02.4271.

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Alors que la physiopathologie du syndrome maternel de préeclampsie est beaucoup mieux comprise,celle de son versant placentaire, qui est le primummovens du syndrome, reste mystérieuse. Les outilsmodernes et spécifiques de mesure des stéroïdescomme la spectrométrie de masse après chromatographie gazeuse, ont cependant permis de détecterune diminution de la synthèse de l’œstradiol dansle sang des femmes accouchant dans un contextede préeclampsie. Ce défaut semble consécutif à undéfaut d’aromatisation des androgènes fœtaux etmaternels par le placenta. Ici, nous faisons l’hypothèse que ce défaut e

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11

Carrillo, Isabel Galan, Serena Gatius, and Ana Cristina Rodenas Galvez. "#6359 DAPAGLIFLOZIN TREATMENT IN AUTOSOMAL DOMINANT ALPORT SYNDROME (ADAS)." Nephrology Dialysis Transplantation 38, Supplement_1 (2023). http://dx.doi.org/10.1093/ndt/gfad063c_6359.

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Abstract Background and Aims Alport Syndrome (AS; ORPHA 63) is one of the most frequent hereditary kidney diseases (HKD). Its autosomal dominant form due to COL4A3-4 heterozygous mutations is being increasingly diagnosed thanks to the generalization of genetic studies. Since there is no curative treatment for the disease, management is based on drugs that slow its progression, mainly RAAS inhibitors. The SGLT2 inhibitor Dapagliflozin has demonstrated to slow chronic kidney disease (CKD) progression by decreasing proteinuria, however very few ADAS patients were included in its clinical trial. O

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12

Firat, Emilia Anouk Margo, Eva Miriam Buhl, Nassim Bouteldja, et al. "PDGF-D is dispensable for the development and progression of murine Alport syndrome." American Journal of Pathology, February 2024. http://dx.doi.org/10.1016/j.ajpath.2023.12.009.

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13

AKSENOVA, MARINA, Natalia Konkova, Tatjana Lepaeva, et al. "P1812DOES THE TOTAL KIDNEY VOLUME REFLECT ALPORT SYNDROME PROGRESSION?" Nephrology Dialysis Transplantation 35, Supplement_3 (2020). http://dx.doi.org/10.1093/ndt/gfaa142.p1812.

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Abstract Background and Aims The kidney volume can reflect kidney function and predict renal disease progression. The aim of the study was to define the clinical significance of kidney volume in children with Alport syndrome (AS). Method The medical records were obtained from 86 children (age Me 8(5;11) years; 50M/36F) with genetically (n=78) and morphologically (n=8) confirmed AS; follow-up Me 4(2;6) years. Albuminuria (Alb), proteinuria (Pr), nephrotic proteinuria (nPr) and decreased eGFR were defined as urine Alb&gt;30 mg/gr Cr, Pr≥100 mg/m2/day, Pr≥960 mg/m2/day and eGFR&lt;90 ml/m

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14

Zhou, Lin, Yao Zhang, Chaohua Tian, Jinying Liao, Houjue Yu, and Li Tang. "Corneal endothelial neovascularization and glaucoma in X-linked Alport syndrome." European Journal of Ophthalmology, February 13, 2025. https://doi.org/10.1177/11206721251313663.

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Introduction Variants in COL4A5 are responsible for X-linked Alport syndrome. It is characterized by kidney disease, sensorineural hearing loss and variable ocular abnormalities. In this case, a woman with corneal endothelial neovascularization, glaucoma, nuclear cataract, temporal retinal thinning, and renal defects was identified with a variant in COL4A5. Case presentation We described a 64-year-old woman who was referred to our Eye Clinic due to a progressive decline in vision in both eyes over the course of two years. Corneal endothelial neovascularization, elevated intraocular pressure (3

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15

Wang, Ying, Qingnan He, Xiqiang Dang, Xiaochuan Wu, and Xiaoyan Li. "Clinical features and familial mutations in the coexistence of Wilson's disease and Alport syndrome: A case report." Frontiers in Pediatrics 11 (March 31, 2023). http://dx.doi.org/10.3389/fped.2023.1107280.

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BackgroundAlport syndrome (AS) and Wilson's disease (WD) are genetic diseases that could lead to kidney damage. Herein, we report the clinical features and gene variants in a patient with WD and X-linked AS.Case presentationThe proband was a 12-year-old boy diagnosed with AS coexisting with WD at the age of 11 years. The patient underwent a medical check-up when he was 4 years and 8 months. Laboratory tests revealed elevated liver enzymes, decreased serum ceruloplasmin, increased 24-h urinary copper excretion, and one variant in the ATP7B gene. Then, the patient was diagnosed with WD. After 2

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16

F., Tabti M. El Harrak Z. Lahlafi C. Rhemimet A. Ameur Z. Lakhal and A. Benyass. "LA CARDIOMYOPATHIE NEUROGENE APRES UN ACCIDENT VASCULAIRE CEREBRAL ISCHEMIQUE: A PARTIR D UN CAS ET REVUE DE LITTERATURE." April 8, 2023. https://doi.org/10.5281/zenodo.7981117.

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La cardiomyopathie neurogene (CN) correspond a une sideration myocardique etendue, sans rapport avec un territoire coronarien, secondaire a une lesion neurologique et resultant dun desequilibre du systeme nerveux autonome.Le spectre danomalies cardiaques observees comprend des modifications electriques, une elevation du taux de troponine, une dysfonction ventriculaire, et des troubles de la cinetique, mimant un infarctus du myocarde mais a la coronarographie le reseau coronaire est normal ou discretement atheromateux sans stenose significative et sans aspect thrombotique.Il sagit dun

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17

Berrada, Taher, Oumaima M\'hamdi, Intissar Benzina, Fatema Zahra Lamine, Najia Zraidi, and Abdelaziz Baidada. "Prise en charge du syndrome alport au cours de la grossesse: � propos d�un cas et revue de la litterature." Pan African Medical Journal 31 (2018). http://dx.doi.org/10.11604/pamj.2018.31.241.12581.

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18

Granhøj, Jeff, Birgitte Tougaard, Dorte L. Lildballe, and Maria Rasmussen. "Family History is Important to Identify Patients with Monogenic Causes of Adult-Onset Chronic Kidney Disease." Nephron, August 30, 2021, 1–9. http://dx.doi.org/10.1159/000518175.

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Monogenic causes of chronic kidney disease (CKD) are more prevalent in adults than previously thought, as causative gene variants are found in almost 10% of unselected patients with CKD. Even so, genetic testing in patients with adult-onset CKD is uncommon in clinical practice and the optimal criteria for patient selection remain unclear. A family history of kidney disease emerges as one marker associated with a high diagnostic yield of genetic testing. We present 3 cases of adult-onset CKD with underlying monogenic causes exemplifying different modes of inheritance. Case 1 is a 60-year-old ma

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