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Phenotypic variation in a large family with autosomal dominant hypocalcaemia

J I Sørheim1, E S Husebye, B G Nedrebø

  • 1Department of Medicine, Haukeland University Hospital, Bergen, Norway. Jan.Inge.Sorheim @ helse-bergen.no

Hormone Research in Paediatrics
|May 27, 2010
PubMed

Insights

Autosomal dominant hypocalcaemia (ADH) linked to CASR mutations shows varied calcium levels and common kidney/basal ganglia calcifications. Vitamin D therapy may increase urinary calcium excretion.

Area of Science:

  • Endocrinology
  • Genetics
  • Nephrology

Background:

  • Autosomal dominant hypocalcaemia (ADH) is a genetic disorder.
  • It results from activating mutations in the calcium-sensing receptor (CASR).
  • Phenotypic variability, particularly calcifications, requires detailed study.

Purpose of the Study:

  • To investigate phenotypic variation in a large family with ADH.
  • To specifically examine kidney and cerebral basal ganglia calcifications.
  • To assess the impact of vitamin D therapy on calcium homeostasis and related complications.

Main Methods:

  • Cross-sectional study of 15 related subjects with the CASR T151M mutation.
  • Evaluated calcium homeostasis, renal function (ultrasonography), cerebral calcifications (CT), bone density, and quality of life (HRQoL).
  • Compared vitamin D-treated and untreated individuals.

Main Results:

  • Renal calcifications (86%) and basal ganglia calcifications (46%) were prevalent, irrespective of vitamin D treatment.
  • Serum calcium, magnesium, and PTH were consistently low.
  • Vitamin D treatment, while correcting hypocalcaemia, was associated with increased urinary calcium excretion and impaired HRQoL.

Conclusions:

  • The CASR mutation's effect on calcium homeostasis is highly variable.
  • Kidney and basal ganglia calcifications are common features of ADH, independent of vitamin D.
  • Vitamin D therapy may increase the risk of urolithiasis due to elevated urinary calcium.
Abstract

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