Registry for patients with hereditary kidney stone disease

Recruiting

• Conditions: N20; E83.5; E72.0; Calculus of kidney and ureter; Disorders of calcium metabolism; Disorders of amino-acid transport

• Registration Number: DRKS00012891
• Lead Sponsor: niversitätsklinikum Leipzig, Klinik und Poliklinik für Endokrinologie und Nephrologie

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Study Start: 2017-08-18
• Last Update Posted: 19 August 2024

Recruitment & Eligibility

• Status: Recruiting
• Sex: All
• Target Recruitment: 4000

Inclusion Criteria

First manifestation before age of 40 years or
positive family history (first grade) or
at least 3 recurrent stones or
specific hereditary phenotype (e.g. cystinuria, nephrocalcinosis) or
present genetic diagnose of hereditary kidney stone disease

Exclusion Criteria

Patients with secondary kidney stone disease, for instance due to primary hyperparathyroidism, malignoma, or sarcoidosis.

Study & Design

• Study Type: observational
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Mutation analysis of more than 30 known monogenic causes and phenotyping by using a clinical questionnaire and analysis of biochemical parameters in urine and serum, as well as stone composition.

Secondary Outcome Measures

Name	Time	Method
Identification of novel genetic causes by genome/exome-wide mutation analysis in selected unresolved cases from consanguineous/multiplex families with nephrolithiasis. Furthermore mutation analysis of candidate genes in remaining unresolved cases.