Natural History and Genotype-Phenotype Correlation in Female X-Linked Alport Syndrome.

ABSTRACT:

Introduction

X-linked Alport syndrome (XLAS) is a hereditary disease characterized by progressive nephritis, hearing loss, and ocular abnormalities. Affected male patients usually progress to end-stage renal disease in early or middle adulthood, and disease severity is strongly correlated with genotype. However, the clinical course in female patients has rarely been reported.

Methods

We conducted a retrospective analysis of females with genetically proven XLAS (n = 275) and their affected female family members (n = 61) from 179 Japanese families. Patients suspected to have Alport syndrome from pathologic findings or a family history who were referred from anywhere in Japan for genetic diagnosis between 2006-2015 were included in this study. Clinical and laboratory data were

SUBMITTER: Yamamura T 

PROVIDER: S-EPMC5733817 | biostudies-literature | 2017 Sep

REPOSITORIES: biostudies-literature