Dear ERKNet Member,
Manuel Anderegg and Jan Halbritter from Berlin Charité are kindly asking you for your help regarding the identification of patients with monoallelic pathogenic variants in CLDN16/CLDN19. CLDN16 and CLDN19 have been identified as the causative genes in Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) 20 years ago. FHHNC is an autosomal-recessive disease with childhood onset. However, recent data (including data from the Bern Kidney Stone Registry) indicate that monoallelic (likely) pathogenic variants in CLDN16/19 may function as risk-alleles for kidney stone disease (of special interest is the following CLDN16 variant: NM_006580.4 c.458A>G, p.Asn153Ser)
This survey is intended for all physicians who manage kidney stone patients to help catching the full spectrum of CLDN16/19-associated disease. Contribution of fully characterized patients will result in co-authorships (2 co-authorships per family) and banner authorships (for additional authors).
We kindly request your assistance by letting us know, if you follow patients with monoallelic CLDN16/19 alterations at your institution. Please provide your contact details. The team from Berlin Charité will get in touch with you directly.
As ethical approval is an important factor, only patients with signed informed consent are eligible for the survey. Contribution of additional cases with clinical data will be acknowledged by co-authorship.
Thank you very much for your support!
Best wishes,
Your ERKNet team
on behalf of Manuel Anderegg and Jan Halbritter and the teams at Berlin Charité
***This study is supported by the ERKNet WG on Metabolic Disorders***
