HSH is an autosomal recessive disorder characterized by severe hypomagnesemia and secundary hypocalcemia. The disorder is caused by disturbances in cellular magnesium transport in the kidney as well as in the bowel.
The dieseas has been first described by Paundier in 1968.[Error: Macro 'ref' doesn't exist]
Clinical manifestation is usually during infancy. Symptoms of severe hypomagnesemia and hypocalcemia dominate the clinical picture: Tetany and Seizures. Severe neurological injuries might develop and sometime the disease leads to death.
Plasma magnesium is dramatically decreased 0.24 ± 0.11 mmol/l. Renal magnesium excretion is increased. Although plasme calcium is low 1.58 ± 0.33 mmol/l, this is not due to substantial renal losses.
The diagnosis is made when in patients with neuro-muscular complains serum magnesium is checked.
Oral magnesium supplementation is not well tolerated as impaired enteral uptake results in diarhea. This disorder can nor be treated entierely by renal tranplantation.
Hypomagnesemia is a cardinal symptom of HSH. Typical of this disorder is further hypocalcemia, wich is secondary and due to excessive renal losses.
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Paunier L et al. (1968) Primary hypomagnesemia with secondary hypocalcemia in an infant.
OMIM.ORG articleOmim 602014
Orphanet articleOrphanet ID 30924