Tubulopathies

Fertility in dRTA due to pathogenic variants affecting proton pump function

Name of Principal Investigator and research fellow mentor: Detlef Bockenhauer

Affiliation: UZLeuven

Background / Literature Review

Fertility in autosomal recessive dRTA

The proton pump is expressed in the epididymis and involved in sperm maturation and maintaining sperm immobility (to conserve energy)(PMID8597961). Indeed, male FOXI1ko mice are infertile (PMID16932748), whereas Atp6v1b1 and Atp6v0a4 are not (PMID22872862 and PMC1224669).
Nothing is known about fertility in human patients. A simple questionnaire to adult nephrologists taking care of dRTA patients should answer the question. Fertility of female patients could be used as a positive control.

Objective(s) / Working hypothesis

Male patients with autosomal recessive dRTA have impaired fertility

Patient Population

adult dRTA patients with causative variants in ATP6V1B1, ATP6V0A4 or FOXI1

Data Sources & Data Elements

Current age
Presence of children
Presence of known fertility problems

Methodology

Questionnaire

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