Hypomagnesemia 2, kidney (Hypomagnesemia 2 Renal) - Gen FXYD2.
Renal hypomagnesemia 2 (HOMG2) is a disturbance due to primary renal magnesium deficiency. Plasma concentrations of other electrolytes are normal. The only anomaly found in addition to the low magnesium is reduced renal calcium excretion causing hypocalciuria. Signs and symptoms of the disease include muscle weakness, cramps, tetany and numbness of body parts. Sometimes, the disease can be asymptomatic.
This process is due to mutations in the FXYD2 gene, located on the long arm of chromosome 11 (11q23), encoding part of the sodium-potassium-ATPase, which provides the driving force in the active processes kidney pump maintains the potential rest, and the sodium gradient required for reabsorption and transport thereof.
Mutations in this gene associated with renal FXYD2 hypomagnesemia 2 cause changes in the amino acids of the protein, which leads to poor processing and incorrect location of the gamma subunit of sodium potassium ATPase pump. These changes may be involved in the formation of the receptor binding site cardiac glycoside or may modulate the transport function of the sodium ATPase.
This disease is inherited as an autosomal dominant, which means that a copy of the altered gene in each cell is sufficient to cause the alteration.
Tests in IVAMI: in IVAMI perform detection of mutations associated with renal hypomagnesemia 2 complete by PCR amplification of exons FXYD2 gene, and subsequent sequencing.
Samples recommended: EDTA blood collected for separation of blood leukocytes, or impregnated sample card with dried blood (IVAMI may mail the card to deposit the blood sample).