| GITELMAN SYNDROME; GTLMNS | |
| HYPOMAGNESEMIA-HYPOKALEMIA, PRIMARY RENOTUBULAR, WITH HYPOCALCIURIA | |
|
263800
OMIM = Online Mendelian Inheritance of Men | |
|
358 | |
| Solute carrier family 12 member 3 | |
| very rare autosomal recessive mutation in the SLC12A3 gene onset usually after school age | |
| Laboratory findings | Calcium dec (urine) Chloride normal/inc (serum) Magnesium dec (serum) Magnesium inc (urine) Potassium dec (serum) Renin activity (PRA) or renin inc (plasma) |
| Symptoms | chondrocalcinosis hypokalemia muscle cramps muscle weakness pain, abdominal paresthesia polydipsia (increased drinking) polyuria seizures tetany cardiac arrhythmia, dysrhythmia metabolic alkalosis nephrocalcinosis onset, adolescent onset, childhood pain, bones or joints vomiting |