Hypomagnesemia 3, Renal

Alternative Names

  • HOMG3
  • FHHNC
  • Familial Hypercalciuric Hypomagnesemia, and Nephrocalcinosis
  • Hypomagnesemia, Primary Magnesium, Defect in Renal Tubular Transport of
  • Hypomagnesemia, Primary, due to Defect in Renal Tubular Transport of Magnesium
  • Hypomagnesemia, Isolated Renal
  • Hypomagnesemia, Familial, with Hypercalciuria and Nephrocalcinosis

Associated Genes

Claudin 16
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WHO-ICD-10 version:2010

Endocrine, nutritional and metabolic diseases

Metabolic disorders

OMIM Number

248250

Mode of Inheritance

Autosomal recessive

Gene Map Locus

3q28

Description

Familial Hypercalciuric Hypomagnesemia and Nephrocalcinosis (FHHNC) is a rare autosomal recessive disorder of magnesium re-absorption by the thick ascending loop of Henle (tALH), which manifests itself during childhood. This re-absorption defect results in severe renal magnesium wasting, hypercalciuria, bilateral nephrocalcinosis, and progressive renal failure. Other features of the condition include recurrent urinary tract infections, polyuria, nephrolithiasis, incomplete distal tubular acidosis, growth retardation, rickets, convulsions, and abdominal colics. Like all magnesium deficiency diseases, FHHNC is also associated with tetanic convulsions, muscle weakness and cramps. Interestingly, unlike other hypomagnesic conditions, patients with FHHNC do not readily develop hypocalcemia, as the excess urinary excretion of calcium is compensated for by increased intestinal absorption and release from the bone.

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
248250.1.1LebanonMaleYesYes Short stature ; Hypercalciuria ; Neph...NM_006580.3:c.704C>AHomozygousAutosomal, RecessiveSanjad et al, 2007 Proband
248250.1.2LebanonFemaleYesYes Short stature ; Hypomagnesemia ; Hyp...NM_006580.3:c.704C>AHomozygousAutosomal, RecessiveSanjad et al, 2007 Sister of 248250.1.1
248250.1.3LebanonMaleYesYes Short stature ; Hypomagnesemia ; Hyp...NM_006580.3:c.704C>AHomozygousAutosomal, RecessiveSanjad et al, 2007 Brother of 248250.1....
248250.1.4LebanonMaleYesYes Short stature ; Hypomagnesemia ; H...NM_006580.3:c.704C>AHomozygousAutosomal, RecessiveSanjad et al, 2007 Nephew of 248250.1.1

Other Reports

Arab

Dudin and Teebi, 1987, described primary hypomagnesemia with secondary hypocalcemia as a cause of infantile tetany and convulsions in an Arab girl of consanguineous parentage.

Oman

Bhasker et al, 1999, were the first to report the development of reversible external hydrocephalus (increased collection of cerebrospinal fluid in the subarachnoid space with normal or minimal ventricular dilatation) in two siblings with primary hypomagnesemia, who were born to consanguineous parents. 

Saudi Arabia

Al-Elq, 2008, described two Saudi sisters with FHHNC born to consanguineous parents. 

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