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Hydrochlorothiazide in CLDN16 mutation

Bettina Zimmermann1, Christian Plank, Martin Konrad

  • 1Klinik für Kinder und Jugendliche, Friedrich-Alexander-University of Erlangen-Nuremberg, Loschgestr. 15, D-91054 Erlangen, Germany.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association
|April 6, 2006
PubMed

Insights

Hydrochlorothiazide (HCT) effectively reduces hypercalciuria in patients with familial hypomagnesaemia with hypercalciuria and nephrocalcinosis (FHHNC) caused by CLDN16 mutations. This study confirms HCT

Area of Science:

  • Nephrology
  • Genetics
  • Pharmacology

Background:

  • Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis (FHHNC) is a genetic disorder caused by mutations in the CLDN16 gene.
  • Hydrochlorothiazide (HCT) is a diuretic used in FHHNC treatment, but its short-term efficacy in reducing hypercalciuria has not been clinically validated.

Purpose of the Study:

  • To investigate the short-term efficacy of hydrochlorothiazide (HCT) in reducing hypercalciuria in patients with FHHNC due to CLDN16 mutations.

Main Methods:

  • A clinical study involving eight patients (four male, four female) with FHHNC and CLDN16 mutations.
  • Patients underwent three treatment periods: 4 weeks of continued HCT therapy, 6 weeks of HCT withdrawal, and 4 weeks of HCT re-initiation.
  • Urinary calcium, magnesium, and potassium levels, along with serum magnesium and potassium, were measured throughout the study.

Main Results:

  • HCT significantly reduced the urinary calcium-to-creatinine ratio (Ca/creat) (P<0.05).
  • While urinary calcium excretion (Ca/24 h) did not significantly change, serum magnesium and potassium levels were significantly higher during HCT withdrawal (P<0.05).
  • Urinary magnesium and potassium excretion remained statistically unchanged during HCT withdrawal.

Conclusions:

  • Hydrochlorothiazide (HCT) demonstrates short-term efficacy in reducing hypercalciuria in patients with FHHNC caused by CLDN16 mutations.
  • Further research is required to determine the long-term effectiveness of HCT in mitigating disease progression in FHHNC.
Abstract

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