Tehran University Medical Journal

Background: The purpose of this study is to determine the incidence of electrolyte and ABG abnormalities in infants with HPS and also we evaluate other parameters of the study. ‎

Materials and Methods: This descriptive study covers 161 infants with HPS hospitalized in children Medical center of Tehran university underwent surgical repair from march 1996 to march 2002 . ‎

Results & Conclusion: The results indicated that Hypokalemic metabolic alkalosis had occurred in 40% of patients. ‎The sex ratio was 3/1 =M/F and the most time of presentation was between 15t and 5st week and the most presenting sign was vomiting. Clinical icter happened to be found in 15% of patients. The incidence of accompanying anomalies was 9% and olive sign was palpable in 40%. ‎The best way for evaluating and diagnosis was sonography. ‎The mean period to begin postoperative feeding was 30 hours&apos no complication related to option was reported after operation.

Background: Gitelman syndrome is a rare autosomal recessive disorder that typically presents with recurrent muscle cramps, carpopedal spasms, hypokalemic metabolic alkalosis, hypocalciuria and hypomagnesemia and high urine magnesium during adolescence. Mutation in the gene encoding for sodium chloride co-transporter in distal convoluted tubule causes electrolyte imbalance.
Case presentation: We present a 10-year-old boy complaining of carpopedal spasms, tingling of fingers and facial parestesia for three years prior to his admission in endocrinology clinic of H. Ali-Asghar Pediatric Hospital. The patient had metabolic alkalosis, hypokalemia, hypocalciuria, increased urine fraction excretion of Mg, serum magnesium of 1.8 mg/dl, normal serum calcium and phosphorus and normal blood pressure. His clinical manifestations recovered after potassium and magnesium administration.
Conclusion: A patient with Gitelman syndrome with normal serum Mg. is presented.