This study discusses the clinical, morphological and transmission electron microscopic findings of a rare case of Alport syndrome in the context of the wider literature.
📌 3 Key Takeaways
🎯
Objective & Hypothesis:Alport syndrome is a type IV collagen synthesis disorder characterized by hereditary progressive glomerular disease resulting from glomerular basement membrane injury, often accompanied by hearing loss and ocular defects.
📊
Key Findings & Data:The most common form is X-linked Alport syndrome, which accounts for 80% of all cases.
💡
Conclusion & Impact:This study discusses the clinical, morphological and transmission electron microscopic findings of a rare case of Alport syndrome in the context of the wider literature.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters
Abstract
Alport syndrome is a type IV collagen synthesis disorder characterized by hereditary progressive glomerular disease resulting from glomerular basement membrane injury, often accompanied by hearing loss and ocular defects. The most common form is X-linked Alport syndrome, which accounts for 80% of all cases. Although women mainly present with mild urinary symptoms, end-stage renal disease onsets at an early age in men. An 11-year-old girl was admitted to our hospital with mild bifissure oedema for the last 3 months. This study discusses the clinical, morphological and transmission electron microscopic findings of a rare case of Alport syndrome in the context of the wider literature.
🔖
Cite This Article
Gul, M., Akpolat, N., Tabel, Y., Tecellioglu, F. S. (2022). Review of the literature on Alport syndrome: A rare cause of nephrotic syndrome. Annals of Medical Research, Cilt: 28 - Sayı: 9, 1791–1794. https://ajindex.com/articles/445686
Cosgrove D, Liu S. Collagen IV diseases: A focus on the glomerular basement membrane in Alport syndrome. Matrix Biol 2017;57-58:45-54
Haas M. Alport syndrome and thin glomerular basement membrane nephropathy: a practical approach to diagnosis. Arch Pathol Lab Med 2009;133:224-32
Kashtan CE. Alport Syndrome and Thin Basement Membrane Nephropathy. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018
Jennette JC, Heptinstall RH, editörler. Heptinstall’s pathology of the kidney. 6th ed. Philadelphia, PA: Lippincott Williams & Wilkins; 2007. 2 s
Wickman L, Hodgin JB, Wang SQ, Afshinnia F, Kershaw D, Wiggins RC. Podocyte Depletion in Thin GBM and Alport Syndrome. Long D, editör. PLOS ONE. 18 May 2016;11:e0155255
Guo L, Li D, Dong S, Wang D, Yang B, Huang Y. Mutation analysis of COL4A3 and COL4A4 genes in a Chinese autosomal-dominant Alport syndrome family. J Genet 2017;96:389-92
Sulen Sarioglu. Nephropathology- Kidney Diseases and Pathology of Kidney Transplantation. 1. edition. 2012. 277 p
Baek H, Lee S-I, Park T, Cho M. The Transition from Thin Basement Membranes to Typical Alport Syndrome Morphology in Children. Fetal Pediatr Pathol 2016;35:369-75. 9. Żurawski J, Burchardt P, Seget M, Moczko J, Woźniak A, Grochowalski M, vd. Difficulties in differentiating thin basement membrane disease from Alport syndrome. Pol J Pathol 2016;4:357-63.