Renal salt wasting commonly provokes mild hypotension. Case report of gitelman syndrome 1060 int j clin exp med 2019. Gitelman syndrome is caused by inactivating mutations of the gene that encodes the renal sodiumchloride cotransporter ncc. Gs is caused by an inactivating mutation in the slc12a3 gene, which is located on the long arm of chromosome 16 16q and encodes a thiazidesensitive sodium chloride. A 76yearold man received a live unrelated kidney transplant from a donor with known gitelman syndrome secondary to a pathogenic mutation of slc12a3. To screen for possible pathogenic loci in a patient with gitelman syndrome by highthroughput exome sequencing and to explore the relationship between the genotype and phenotype. A 42 yearold woman presented with a 20 yearhistory of hypokalemic metabolic alkalosis with hypomagnesemia and hypocalciuria after cisplatinbased chemotherapy for ovarian cancer. I think this report adds to knowledge about this rare disease and merits indexation.
A case of acquired gitelman syndrome presenting as hypokalemic. A careful history, physical examination and determination of urine chloride concentration are important for diagnosis. It is characterized by hypokalemia, hypomagnesemia, hypocalciuria, metabolic alkalosis, and normal blood pressure. A 25yearold healthy woman was referred to the endocrinology clinic for evaluation of persistent hypokalaemia. Complicated gitelman syndrome and autoimmune thyroid. Hypercalcaemia due to hypocalciuria in these patients is extremely rare.
Gitelman syndrome gs is an autosomal recessive saltlosing renal tubulopathy characterized by fluid and electrolyte disturbances, as well as urinary, and hormonal abnormalities, including hypomagnesemia, hypocalciuria, and secondary hyperreninemic aldosteronism, that causes hypokalemic metabolic alkalosis 1, 2. The dominant features are fatigue, weakness, hypocalciuria, hypomagnesemia with hypermagnesuria and normal prostaglandin production. The recipient was a 76yearold man with kidney failure due to histologically proven hypertensive nephropathy who was maintained on peritoneal dialysis therapy. Gitelman syndrome manifesting in early childhood and. Case report an unusual case of gitelmans syndrome with hypercalcemia yaoko wen division of nephrology, department of internal medicine, changhua christian hospital, changhua, taiwan abstract we reported a case of a 41yearold woman who had been. We report a case of male with gitelman s syndrome who presented to pediatric emergency department mainly due to hyperemesis, fever and hypoactivity. The localization of clckb in the distal convoluted tubule explains the phenotypic overlap with gs. Immediate graft function preceded the emergence of the gitelman syndrome biochemical phenotype and blood pressure subsequently improved.
Common features of this condition include painful muscle spasms tetany, muscle weakness or cramping, dizziness, and salt craving. Case report open access complicated gitelman syndrome and autoimmune thyroid disease. Thus, he was admitted to the pediatric ward and intravenous potassium supplementation was commenced. Gitelman syndrome is an inherited tubulopathy that must be considered in some settings of hypokalaemia. Case 1 a 66yrold female was seen in our outpatient clinics. Gitelman syndrome gs is an inherited autosomal recessive renal tubular disorder characterized by low levels of potassium and magnesium in the blood, decreased excretion of calcium in the urine, and elevated blood ph. Gitelmans syndrome with persistent hypokalemia dont. Severe hyponatremia and hypocalcemia in gitelman syndrome. In this case report, we discuss a patient with hypokalemia and rhabdomyolysis which is diagnosed as. Gitelman syndrome is an inherited tubulopathy leading to a hypokalaemic metabolic alkalosis with hypomagnesaemia and hypocalciuria. Liquoriceinduced severe hypokalemic rhabdomyolysis with.
The gitelmans syndrome present during adolescence or adulthood, inherited as autosomal recessive traits. Pdf gitelmans syndrome is an autosomal recessive disorder caused by a defect of the thiazidesensitive sodium chloride cotransporter at the distal. Outpatient management of gitelmans syndrome in pregnancy. Gitelman syndrome gs is an autosomal recessive saltlosing renal tubulopathy that causes hypokalaemia and metabolic alkalosis. I think this report will be useful to other clinicians who may rarely see a case of gitelman syndrome. Gitelman syndrome gs, also referred to as familial hypokalemiahypomagnesemia, is an salt losing renal tubulopathy that is characterized by hypomagnesemia.
The patient was diagnosed with gitelman syndrome and was treated with supplements of potassium and magnesium. It usually presents in late childhood or in teenage as nonspecific weakness, fatigability, polyuria, and polydipsia but very rarely with seizures. Chronic hypokalemic metabolic alkalosis with hypomagnesemia and hypocalciuria is one of the rare complications associated with its use. Gitelman syndrome, slc12a3, highthroughput sequencing, bioinformatics analysis, case report core tip. We report the planned transplantation of a kidney from a living donor with gitelman syndrome. Table 1 clinical manifestations encountered in gitelman syndrome patients most common 50% of patients prominent 20% to 50% of patients occasional case reports salt craving cramps, muscle weakness fatigue dizziness nocturia thirst, polydipsia paresthesia, numbness palpitations low blood pressure fainting polyuria arthralgia. Thus, he was admitted to the pediatric ward and intravenous potassium supplementation was commenced to counter the observed hypokalemia 2. The disorder is caused by genetic mutations resulting in improper function of the thiazidesensitive sodiumchloride symporter also known as ncc, ncct, or tsc located in the distal convoluted. Gitelman syndrome associated severe hypokalemia and hypomagnesemia. Novel heterozygous missense mutation of slc12a3 gene in gitelman syndrome.
Gitelman s syndrome gs, an autosomal recessive disorder caused by a defect of the thiazide. Case report the recipient was a 76yearold man with kidney failure due to histologically proven hypertensive nephropathy who was maintained on peritoneal dialysis therapy. Gitelman syndrome manifesting in early childhood and leading to. Gitelman syndrome is a kidney disorder that causes an imbalance of charged atoms ions in the body, including ions of potassium, magnesium, and calcium the signs and symptoms of gitelman syndrome usually appear in late childhood or adolescence. Gitelman syndrome manifesting in early childhood and leading to delayed puberty. Bs type iii, often known as classic bs cbs, is caused by lossoffunction mutations in clcnkb chloride voltagegated channel kb.
Wed like to understand how you use our websites in order to improve them. Gitelmans syndrome is a congenital renal tubular defect which affects the apical membrane of the distal convoluted tubule of the renal system. Cisplatin is a wellknown nephrotoxic antineoplastic drug. Biallelic inactivating mutations in the solute carrier. Gitelman syndrome is a rare and autosomal recessive disorder characterized by hypokalemia, metabolic alkalosis, hypomagnesemia, hypocalciuria and hypertension. Gitelman syndrome gs is a rare autosomal recessive saltlosing tubulopathy of young adults, characterised by hypokalaemia, hypomagnesaemia, hypocalciuria and secondary hyperaldosteronism. Gitelmans syndrome is primarily renal tubular hypokale mic metabolic alkalosis with hypocalciuria and magnesium deficiency, a benign disorder, inherited as. There are rare cases of gitelman syndrome presenting in early. Background gitelman syndrome gs, is an inherited autosomal recessive renal disorder characterized by hypokalemic metabolic alkalosis with significant hypomagnesemia and low urinary calcium excretion. A rare case report of gitelmans syndrome present, mimic as.
Gs has long been considered a benign tubulopathy, usually. Pdf severe hyponatremia and hypocalcemia in gitelman. An 18yearold male patient with 1week history of auditory hallucinations, sense of insecurity, delusions of reference. Gitelman syndrome in a donor organ may promote normotension and also mitigate against the adverse saltretaining effects of calcineurin inhibitors cnis that are mediated by increased ncc activity,4 thereby conferring improved graft survival.
There are only a few cases describing the impact of gitelmans syndrome on pregnancy and the foetus. Pdf a case report of gitelman syndrome resulting from. The patient is now being treated with potassium and magnesium oral supplements, ramipril and spironolactone with stable nearnormal potassium and magnesium. There are only a few cases describing the impact of gitelman s syndrome on pregnancy and the foetus. Full article pdf 7 academic content and language evaluation of. Musculoskeletal effects of gitelman syndrome are common, including muscle weakness, tetany and cramps. Gitelman syndrome gs is a rare renal disorder resulting from a mutation in the gene scl12a3, which encodes for the thiazide. We report a case of male with gitelmans syndrome who presented to pediatric emergency department mainly due to hyperemesis, fever and hypoactivity. It presents with variable clinical symptoms including muscle weakness and fatigue, and the diagnosis is based on metabolic alkalosis, hypokalemia, hypomagnesemia and hypocalciuria. Gitelman syndrome gs, also referred to as familial hypokalemia hypomagnesemia, is an salt losing renal tubulopathy that is characterized by hypomagnesemia. Pdf gitelman syndrome manifesting in early childhood and. Gitelman syndrome is an inherited autosomal recessive renal saltwasting disorder.
Gitelman s syndrome is a congenital renal tubular defect which affects the apical membrane of the distal convoluted tubule of the renal system. Incidence varies with reports but is estimated at approximately 1. Gitelman syndrome gs is an autosomal recessive kidney tubule disorder characterized by low blood levels of potassium and magnesium, decreased excretion of calcium in the urine, and elevated blood ph. It is caused by tubular defects at the level of distal convoluted tubules, mimicking a thiazidelike tumor. An unusual case of gitelmans syndrome with hypercalcemia. It is a rare disorder which usually manifests in early adulthood with muscle weakness, fatigue, muscle cramps, and less commonly by abdominal pain, nausea and vomiting. A case report of gitelman syndrome resulting from two novel. Chronic hypokalemia is the main finding in patients with gitelmans syndrome. We report here a patient who presented with features of gitelmans syndrome.
Hypokalemia, rhabdomyolysis, liquorice, gitelman syndrome, diabetes, case report core tip. Genetic tests for slc12a3 gene mutation described in gitelman syndrome gs came negative. Exogenous factors can trigger deterioration of the patients condition and provoke clinical symptoms. Clcnkb gene mutation analysis present in both gs and bartter bs type 3 syndromes was positive. Gitelman syndrome is one of the few inherited causes of metabolic alkalosis due to salt losing tubulopathy. Gitelman syndromeassociated severe hypokalemia and hypomagnesemia. It is usually diagnosed incidentally in early adulthood. Our case presents gs with normal serum magnesium in a patient, with seizures being the main clinical presentation. Gitelman syndrome during pregnancy from diagnosis to. Gitelmans syndrome gs is a rare autosomal recessive condition first described in 1966. Transplantation of a gitelman syndrome kidney ameliorates. Gitelman syndrome genetic and rare diseases information.
Discussion gitelman s syndrome gs is an inherited hypokalemic saltlosing tubulopathy with secondary hyperaldosteronism thata ectsthethiazideinhibitablesodiumchloridecotransporter ncct of the distal tubule, making its presentation. We present the case of a 60yearold male patient referred to our nephrology department for persistent hypokalaemia. A case report of gitelman syndrome resulting from two novel mutations in slc12a3 gene article pdf available may 2016 with 171 reads how we measure reads. Most cases are due to mutations in slc12a3, encoding the apical thiazide sensitive cotransporter in the distal convoluted tubule. There is a clear discussion of the medical management strategy used in this patient which lead to an improvement of symptoms and the avoidance of surgery. We report a case of a young female patient who presented with weakness of upper and lower limbs. We describe the case of a 31yearold, previously apparently healthy caucasian. Gitelman syndrome is a recessively inherited saltlosing tubulopathy characterized by hypokalaemia, hypomagnesaemia, inappropriate kaliuresis and hypocalciuria. Gitelman syndromegs is a rare inherited tubular disorder which is characterized by hypokalemia, metabolic alkalosis, hypomagnesemia, and hypocalciuria. Hypokalaemia is a common clinical disorder, the cause of which can usually be determined by the patients clinical history.
Novel heterozygous missense mutation of slc12a3 gene in. The baby born preterm following a pregnancy complicated by polyhydramnios, presented at 7 months of age with failure to thrive, gastroenteritis. This is the first reported case of liquoriceinduced severe hypokalemic rhabdomyolysis with gitelman syndrome and diabetes. Case report diffuse calcium pyrophosphate deposition. The majority of cases are caused by loss of function mutations in the slc12a3 gene coding for the thiazidesensitive sodiumchloride cotransporter ncc, normally expressed in the. Gitelman syndrome is a kidney function disorder that causes an imbalance of. The syndrome is characterised by hypokalaemia, hypomagnesaemia, metabolic alkalosis and hypocalcuria. Mutation in the slc12a3 gene on chromosome 16 16q results in loss of function of the encoded thiazidesensitive sodium chloride cotransporter in the distal convoluted tubule of the kidney, leading. Biallelic inactivating mutations in the solute carrier family 12. The paucity of previous kidney transplants from donors with known tubulopathies suggests that such.
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