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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
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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.

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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.