Abstract

ALPORT SYNDROME: A REVIEW

Dr. Reshma P. Varghese*, Dr. Kumar V., Dr. Kezia K. Sabu, Dr. Manojkumar S., Dr. Thirumurugan N., Dr. Shafrin Fathima A.S.

ABSTRACT

A rare inherited illness, following autosomal dominant polycystic kidney disease, is Alport Syndrome (AS). The disease spectrum is diverse, ranging from solitary microhaematuria to end- stage renal disease in early childhood. Its three distinct inheritance patterns are autosomal dominant, autosomal recessive and X- linked. In Europe, it represents 0.6%of all patients receiving renal replacement treatment.It is most frequently inherited as a 1 in 5000 gene- frequency X- linked disorder.

Keywords: Alport syndrome, COL4A, X-Linked, Hematuria.