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Intrafamilial Disease Heterogeneity in Primary Hyperoxaluria Type 1.

Lisa J Deesker¹, Hazal A Karacoban¹, Elisabeth L Metry¹

¹Department of Pediatric Nephrology, Emma Children's Hospital, University of Amsterdam, Amsterdam, the Netherlands.

Kidney International Reports

|October 21, 2024

Summary

This summary is machine-generated.

Primary hyperoxaluria type 1 (PH1) shows significant intrafamilial variation. Siblings of PH1 patients often have better kidney survival and clinical outcomes than index cases, highlighting the importance of early family screening.

Keywords:

PH1 discordance families intrafamilial heterogeneity kidney failure primary hyperoxaluria

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Published on: June 20, 2018

Area of Science:

Nephrology
Genetics
Rare Diseases

Background:

Primary hyperoxaluria type 1 (PH1) exhibits considerable clinical variability, even among family members.
The full extent of this intrafamilial clinical heterogeneity remains understudied.

Purpose of the Study:

To investigate intrafamilial clinical heterogeneity and disease progression in siblings with PH1.
To analyze differences in kidney survival between index cases and their affected siblings.

Main Methods:

Retrospective registry study using OxalEurope data from PH1 families with multiple affected siblings.
Development and application of a 6-point scoring system to assess intrafamilial clinical heterogeneity.
Kaplan-Meier analysis to compare kidney survival rates.

Main Results:

38% of 88 included PH1 families displayed significant intrafamilial clinical heterogeneity.
Affected siblings, particularly those diagnosed asymptomatically, showed significantly better clinical outcomes and kidney survival than index cases (P < 0.001).
Index cases experienced kidney failure earlier in life and follow-up compared to siblings (P < 0.001).

Conclusions:

Intrafamilial clinical heterogeneity is common in familial PH1.
Early diagnosis through family screening can improve prognosis for siblings with PH1 due to better outcomes and kidney survival.