Hypomagnesemia With Secondary Hypocalcemia

From Anvita Health Wiki

Contents 1 Introduction 2 Pathology 3 Genetics 4 Clinical-manifestations 5 Laboratory 6 Complications 7 Management 8 More General Terms 9 Additional Terms 10 Internet Database 11 References

Introduction

• Hereditary defect in Mg+2 absorption

Pathology

• defect in Mg+2 absorption resulting in hypomagnesemia
• hypocalcemia secondary to parathyroid failure resulting from Mg+2 deficiency
• calcinosis

Genetics

• autosomal recessive disease
• mutations in the TRPM6 gene

Clinical-manifestations

• neurologic symptoms of hypomagnesemic & hypocalcemia

• seizures & muscle spasms, during infancy

Laboratory

• serum Mg+2 low
• 24 hour urine Mg+2
• serum Ca+2 low

Complications

• untreated, the disorder may be fatal or may result in neurological damage

Management

• restoring concentrations of serum Mg+2 to normal values by high-dose Mg+2 supplementation can overcome defect in Mg+2 absorption & in serum Ca+2.

More General Terms

• familial hypomagnesemia

Additional Terms

• transient receptor potential cation channel subfamily M member 6 (channel kinase 2, melastatin-related TRP cation channel 6, TRPM6, CHAK2)

Internet Database

OMIM: 602014

References

1. UniProt [1]
2. OMIM [2]

hypomagnesemia with secondary hypocalcemia (HSH)