In Gitelman syndrome, an autosomal recessive disorder, mutations in SLC12A3, which encodes for thiazide-sensitive sodium chloride cotransporter in the distal convoluted tubule, lead to urinary Mg wasting, hypomagnesemia, hypokalemia, hypocalciuria
, and metabolic alkalosis (13, 14).
Calcium conservation during pregnancy may be observed in in those with vitamin D-deficiency when the affected women tend to develop hypocalciuria
Resistance occurs only at the renal proximal tubule and distal renal tubule and PTH is functionally intact and therefore, the patients will have hypocalciuria
Here, we presented a case of hypocalciuria
hypercalcemia with suppressed PTH levels.
Disorders of calcium metabolism, including hypocalciuria
and low vitamin D level, have been consistently described, during in the course of pregnancy of women who later developed preeclampsia [2-4].
Gitelman syndrome (GS), an autosomal recessive inherited disease (OMIM 263800) first reported by Gitelman in 1966, manifests mainly as hypokalemia, hypomagnesemia and hypocalciuria
Several researchers have reported that hypocalciuria
is associated with preeclampsia due to derangement in calcium metabolism associated with this condition.
The most typical laboratory test abnormalities include hypokalemia, hypochloremic metabolic alkalosis, hypomagnesemia, hypocalciuria
, and renin-angiotensin-aldosterone system activation.[sup] The main characteristic of GS is normal low-limit blood pressure or low blood pressure.
Because of the patient's hypocalciuria
and the insufficient correction of hypomagnesemia by magnesium supplementation, GS was the most likely diagnosis, pending the genetic testing required to establish the diagnosis (3, 5).
Decreased renal filtration and increased tubular reabsorption may result in hypocalciuria
Other tests of note are serum calcium and 24-hour urinary calcium, which provide an indication of daily calcium intake as well as detection of hypercalciuria and hypocalciuria
. Because of widespread vitamin D insufficiency/ deficiency (defined as either <20 ng/mL or [less than or equal to] 12 ng/mL, respectively, depending on the professional guidelines), obtaining a serum 25(OH)D is very important.
The reported conditions include sarcoidosis, (5) a variety of rheumatic diseases, (6-9) lymphangioleiomyomatosis, (10) the Hermansky-Pudlak syndrome (11) neurofibromatosis, (12) and familial hypercalcemic hypocalciuria