CASE REPORT ON ALPORT SYNDROME

Lekshmi E. S.*, Catherin T. J., Neetha Sabu, Blessy Rachel Thomas, Neenu Baby, S. Hemalatha and T. Sivakumar

ABSTRACT

Alport syndrome is a genetic disorder of glomerulus caused due to mutation in type IV collagen, a key component of the glomerular basement membrane. It is clinically manifested with symptoms which include haematuria, proteinuria, deafness, anterior lenticonus and retinal discolouration. Diagnosis is mainly done by renal biopsy and medical history. No specific therapy is recommended for alport syndrome. Symptomatic treatment includes: Angiotensin Converting Enzymes inhibitor/ Angiotensin receptor blocker, 3-Hydroxy-3- methyl-glutaryl-coenzyme A reductase inhibitors, non-dihydropyridine calcium channel blocker. In this report, we present a 12 year old boy with complaints of fever, pain in abdomen and loss of appetite. He is a known case of alport syndrome, hypertension, end stage renal disease and underwent renal transplantation. On laboratory examination his creatinine, urine micro-albumin to creatinine ratio, C - reactive protein was elevated. In hospital he was treated with Intravenous fluids, antibiotics, immunosuppressants and antihypertensive.

Keywords: Alport syndrome, End stage renal disease, Renal Transplantation, Hypertension, Proteinuria, Angiotensin converting enzyme inhibitors.