RT Book, Section A1 Chawla, Varun A1 Pollak, Martin A2 Murray, Michael F. A2 Babyatsky, Mark W. A2 Giovanni, Monica A. A2 Alkuraya, Fowzan S. A2 Stewart, Douglas R. SR Print(0) ID 1102706133 T1 Alport Syndrome T2 Clinical Genomics: Practical Applications in Adult Patient Care YR 2014 FD 2014 PB McGraw-Hill Education PP New York, NY SN 9780071622448 LK accessbiomedicalscience.mhmedical.com/content.aspx?aid=1102706133 RD 2024/04/24 AB Disease summary:Alport syndrome is a hereditary glomerular disease caused by mutations in the genes encoding type IV collagen. It is often associated with hearing loss and ocular abnormalities.The most common form of inheritance is X-linked. Classically the affected males present with asymptomatic hematuria in the first decade of life. With advancing age they develop proteinuria, renal insufficiency, and hypertension. They typically progress to end-stage renal disease (ESRD). Males without hematuria in the first decade of life are unlikely to be affected.Hereditary basis:The most common mode of transmission of Alport syndrome is X-linked and a small percentage is autosomal recessive.Differential diagnosis:It is important to distinguish Alport syndrome from other causes of hematuria. These include other glomerulonephritides (IgA nephropathy, MPGN, PSGN), tubulointerstitial diseases (acute pyelonephritis, sickle cell anemia), urinary tract (structural anomalies, hypercalciuria), and vascular anomalies (nut cracker syndrome).The evaluation includes a thorough history including family history, physical examination, evaluation of the urinary sediments (to ascertain if glomerular hematuria), urine and blood studies, renal ultrasound, audiometry, and ophthalmologic examination. Evaluation of urine sediment of family members may aid in the diagnosis. Once the family history, laboratory evaluation, audiometry, and ophthalmologic examination point toward Alport syndrome, skin and renal biopsy can confirm the diagnoses. Genetic testing when available may be the test of choice.