Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Intestinal hypomagnesemia with secondary hypocalcemia

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.

Historical Aspects

The dieseas has been first described by Paundier in 1968.[Error: Macro 'ref' doesn't exist]

Clinical Findings

Signs and Symptoms

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.

Laboratory Findings

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.

Diagnosis

The diagnosis is made when in patients with neuro-muscular complains serum magnesium is checked.

Management

Oral magnesium supplementation is not well tolerated as impaired enteral uptake results in diarhea. This disorder can nor be treated entierely by renal tranplantation.

Symptoms

Hypomagnesaemia
Hypomagnesemia is a cardinal symptom of HSH. Typical of this disorder is further hypocalcemia, wich is secondary and due to excessive renal losses.

Systematic

Hypomagnesemia
EGFR
Gitelman syndrome
Hereditary myokymia type 1
Hypomagnesemia with hypercalciuria and nephrocalcinosis
Hypomagnesemia with hypercalciuria and nephrocalcinosis with ocular involvement
Hypomagnesemia with normocalciuria
Intestinal hypomagnesemia with secondary hypocalcemia
TRPM6
Isolated dominant hypomagnesemia
Renal cysts and diabetes (RCAD)
Renal hypomagnesemia 6
TRPM7

References:

1.

Paunier L et al. (1968) Primary hypomagnesemia with secondary hypocalcemia in an infant.

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Update: Sept. 26, 2018