Intrafamilial Disease Heterogeneity in Primary Hyperoxaluria Type 1.

ABSTRACT:

Introduction

Primary hyperoxaluria type 1 (PH1) is known for its variable clinical course, even within families. However, the extent of this heterogeneity has not been well-studied. We aimed to analyze intrafamilial clinical heterogeneity and disease course among siblings in a large cohort of familial PH1 cases.

Methods

A retrospective registry study was performed using data from OxalEurope. All PH1 families with 2 or more affected siblings were included. A 6-point PH1 clinical outcome scoring system was developed to grade heterogeneity within a family. Intrafamilial clinical heterogeneity was defined as a score ≥2. Kaplan-Meier analyses were used to analyze differences in kidney survival between index cases and siblings.

Results

We included 88 families, encompassing

SUBMITTER: Deesker LJ 

PROVIDER: S-EPMC11489452 | biostudies-literature | 2024 Oct

REPOSITORIES: biostudies-literature