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Hypomagnesemia
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Hypomagnesemia

Clinical feature: 

Definition: The disease is characterized by low serum levels of magnesium often accompanied by other electrolyte disturbances.

Pathogenesis: The loss of magnesium mainly occurs in the kidneys. The distal convoluted tubule reabsorbs the bulk of glomerular filtered magnesium. If enteral absorption is also altered, diarrhea may result. Hypomagnesemia can also develop in conjunction wit other electrolyte disturbances.

Diagnostics: 

Strategy: The extend of magnesium waste can by measured by clamp experiments in which serum magnesium has to be supplemented until steady state conditions have been established and serum concentration remains normal. All the other electrolytes have to be normalized too. In this steady state condition the renal loss can be quantified and related to oral or parenteral substitution.
   Additionally, the following signs have to be considered: family history: autosomal dominant, recessive, x-linked, or de novo mutation; age of onset; accompanying symptoms: acid base disorders, disturbances in calcium balance, diarrhea or other hints about distrurbed enteral absorption; neurological symptoms: cramps, seizures, convulsion, tetany; hormonal disturbances: parathormon, glucagon, calcitonin, vitamin-D, ADH; intoxications: diuretics.

Systematic link table: 

Hereditary Salt-wasting tubulopathies
Bartter syndrome
EAST syndrome
KCNJ10
Gitelman syndrome
SLC12A3
Hypomagnesemia
EGFR
TRPM7
Gitelman syndrome
SLC12A3
Hypomagnesemia with hypercalciuria and nephrocalcinosis
CLDN16
Hypomagnesemia with hypercalciuria and nephrocalcinosis with ocular involvement
CLDN19
Hypomagnesemia with normocalciuria
EGF
Hypomagnesemia with secondary hypocalcemia
TRPM6
Isolated dominant hypomagnesemia
FXYD2

Literature: 

Dai LJ et al. (2001) Magnesium transport in the renal distal convoluted tubule.
Konrad M et al. (2003) Recent advances in molecular genetics of hereditary magnesium-losing disorders.