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Skeletal Phenotype Analysis of a Conditional Stat3 Deletion Mouse Model
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Published on: July 3, 2020

A boy with Dent-2 disease.

Kristina Vrljicak1, Danica Batinić, Danko Milosević

  • 1University of Zagreb, Zagreb University Hospital Centre, Department of Pediatrics, Division of Nephrology, Zagreb, Croatia. kvrljicak@yahoo.com

Collegium Antropologicum
|November 8, 2011
PubMed
Summary
This summary is machine-generated.

Dent disease, a kidney disorder caused by OCRL gene mutations, presents with proteinuria and hypercalciuria. Early treatment with amiloride, hydrochlorothiazide, and citrate effectively reduced calciuria in a pediatric patient.

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Area of Science:

  • Nephrology
  • Genetics
  • Molecular Biology

Background:

  • Dent disease 2 is an X-linked renal tubulopathy.
  • It is caused by mutations in the OCRL gene.
  • Characterized by proteinuria, hypercalciuria, and potential renal failure.

Observation:

  • A pediatric patient presented with proteinuria and hypercalciuria at 8 months.
  • The patient exhibited no significant extra-renal symptoms.
  • An OCRL mutation in exon 1 (c.217_218 del TT p.L73F, fs X1) was identified.

Findings:

  • Treatment with amiloride, hydrochlorothiazide, and citrate was initiated.
  • This therapeutic approach effectively reduced calciuria.
  • The patient maintained normal renal, ophthalmologic, cardiologic, and developmental status.

Implications:

  • This case highlights the efficacy of combined amiloride, hydrochlorothiazide, and citrate therapy for Dent disease.
  • Early diagnosis and management can prevent severe renal complications.
  • Further research into OCRL gene function and Dent disease pathogenesis is warranted.