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Bones, Stones, and Hematuria - Connecting the Dots

Madhura P Fadnis1,2, Vijay Kalrao1, Suprita Kalra3,4

  • 1Pediatrics, Bharati Hospital and Research Centre, Pune, Maharashtra, India.

Indian Journal of Nephrology
|March 10, 2025
PubMed

Insights

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a genetic kidney disorder. A mutation in the CLDN 16 gene was identified in a family with this condition, impacting kidney function.

Area of Science:

  • Pediatric Nephrology
  • Clinical Genetics
  • Renal Medicine

Background:

  • Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a rare genetic disorder affecting kidney function.
  • The condition is characterized by excessive calcium and magnesium loss in the urine, leading to kidney stones and potential kidney damage.

Observation:

  • A 12-year-old boy presented with recurrent gross hematuria, polyuria, rickets, and growth failure.
  • Investigations revealed bilateral renal calculi, small kidneys, hypercalciuria, hypomagnesemia, and reduced kidney function.
  • His younger sibling exhibited similar symptoms, including nephrocalcinosis and hypomagnesemia.

Findings:

  • Genetic analysis identified a homozygous missense variant (c.392G>A) in the CLDN 16 gene in the affected boy.
  • This variant is associated with Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC).
  • The younger sibling carried a similar homozygous mutation, while both parents were heterozygous carriers, confirming a hereditary pattern.

Implications:

  • This case highlights the importance of genetic analysis in diagnosing FHHNC, especially in pediatric patients with recurrent kidney issues.
  • Understanding the genetic basis of FHHNC can aid in early diagnosis, genetic counseling, and potentially the development of targeted therapies.
  • Early identification and management of FHHNC are crucial to prevent progressive kidney disease and associated complications like rickets and growth failure.

Keywords:
FHHNCHypercalciuriaHypomagnesemiaRecurrent gross hematuriaRickets

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