gitelman 's syndrome ( gs ) was first described by gitelman et al . in 1966 . it is an autosomal recessive salt - losing renal tubulopathy that is characterized by hypokalemic metabolic alkalosis , hypomagnesaemia , hypocalciuria , and secondary aldosteronism . it is a rare disease and its clinical symptoms may include fatigue , cramp , muscle weakness , carpopedal spasms , and rarely may include serious symptoms such as paralysis and sudden cardiac arrest . growth retardation can be seen with gs , but not frequent as in other tubular disorders like bartter syndrome ( bs ) . gitelman 's syndrome is caused by mutations of the slc12a3 gene , which encodes the na / cl co - transporter ( ncct ) in the distal convoluted tubule . a 4-year - old child , product of non - consanguineous marriage , was brought to the pediatric intensive care unit ( picu ) of medical college hospital with the complaints of fever , loose stools , labored breathing , weakness of all four limbs , and not growing well . there was no history of recent vaccination , diuretic intake , vomiting , seizure , headache , and chest pain . no other family member had similar illness . on examination , patient was lethargic , severely dehydrated , heart rate 126/min , respiratory rate 52/min , and blood pressure 98/64 mmhg ( 95 percentile for age and height 106/66 ) . on cns examination , tone and power were decreased in all limbs , deep tendon reflexes were diminished , bilateral planters were flexor , and no sign of meningitis . at the time of presentation , his weight was 8.08 kg ( <3 percentile ) and height was 88 cm ( <3 percentile ) ; head circumference was 47 cm , mid - upper arm circumference ( muac ) was 10.8 cm , and weight for height 3 sd . laboratory investigations showed that his hemoglobin was 9 g / dl ; the total leukocyte count was 5.4  1000 cells per mm and blood and urine culture were sterile . meq / l , potassium 2.0 meq / l , calcium 7.7 mg / dl , and magnesium 1.2 mg / dl ( normal 1.7 - 2.2 mg / dl ) ; urea 42 mg / dl , creatinine 0.77 mg / dl , and random blood sugar was 94 mg / dl . with treatment , his hydration status improved ; but hypokalemia was persisting . this was further investigated by 24-h urine analysis which showed the potassium to be 16.8 mmol/24 h ( normal 2.5 - 125 mmol/24 h ) , chloride 50.40 mmol/24 h ( normal 15 - 40 mmol/24 h ) , calcium 2.5 mg/24 h ( normal 100 - 300 mg/24 h ) , and magnesium 1.0 mmol/24 h ( normal 0.04 - 1.40 mmol/24 h ) . arterial blood gas analysis showed metabolic alkalosis ( ph 7.53 , hco3 36.3 , paco2 46.5 , and base excess + 13 ) . biochemical workup showed hypokalemic metabolic alkalosis , hypomagnesaemia with hypocalciuria . before receiving the complete reports of blood biochemistry and urinary electrolyte , we provisionally diagnosed the case as bartter 's syndrome because hypokalemic metabolic alkalosis in a four - year - old child with growth retardation is the typical presentation of bs . he recovered with normokalemia and remarkable weight gain at 2 months of follow - up as is being shown in the table 1 . inherited salt - losing nephropathies gitelman 's syndrome and bartter 's syndrome are rare disorders . gitelman 's syndrome is having the prevalence of 1:40,000 , whereas the bs is having the prevalence of one per million in the western population . one of the largest case series of bs reported from india has the mean age of 6.5  4.9 months . different case reports of gitelman 's syndrome from india are suggestive of presentation of gs in 4 - 6 decades of life . though the gitelman 's syndrome is a inherited disorder , even then the extensive search of literature could not find the reported case of gitelman 's syndrome in childhood . perhaps present case is the first ever reported case of gitelman 's syndrome is a 4-year - old child . symptoms of gitelman 's syndrome reported in literature range from asymptomatic to mild symptoms of cramps and fatigue to severe manifestations such as tetany , paralysis , and rhabdomyolysis . bartter syndrome presents in young children with failure to thrive vomiting , polyuria , dehydration , fever , and respiratory distress . gitelman 's syndrome results from a defect in the na / cl co - transporter ( ncct ) and impaired salt transport in the distal convoluted tubule . as ncct is the target of thiazide diuretics , manifestations of gitelman 's syndrome only about 5 - 10% of the filtered salt load is reabsorbed in the distal convoluted tubule and compensatory responses of the thick ascending loop of henle ( talh ) and the collecting tubule can nearly compensate for this deficit . thus , patients suffering from gitelman 's syndrome exhibit only mild renal salt wasting , but downstream compensatory sodium and chloride reabsorption in the collecting duct , under the influence of increased aldosterone drives potassium secretion in this nephron segment , accounting for marked hypokalemia . compensatory salt reabsorption in talh enhances the luminal electropositive potential and promotes secondary calcium reabsorption . the resultant hypocalciuria is an important clue for distinguishing gitelman 's syndrome from bartter syndrome . the mechanism causing hypomagnesemia in gitelman 's syndrome is still not well understood because only 5 - 10% of filtered magnesium is reabsorbed in the distal convoluted tubule . salt wasting is usually mild in gitelman 's syndrome and nsaid therapy is not usually required . hypokalemia can often be corrected with oral potassium supplements ( 2 - 3 meq / kg / day ) , but some patients may also require the potassium - sparing diuretics . correction of hypomagnesemia may diminish the impact of renal potassium wasting and correct functional hypoparathyroidism . early recognition of this syndrome might provide normal growth development and prevent possible serious complications such as paralysis and sudden cardiac arrest . the case in this discussion was also having associated growth retardation and severe acute malnutrition and by treating the underlying condition , he responded very well with remarkable weight gain following therapy [ table 1 ] . this experience also emphasizes that in india , where malnutrition prevalence is very high , we should keep a very high index of suspicion of other rare causes of malnutrition in case of non - response to standard management protocol .
gitelman 's syndrome is an autosomal recessive disorder characterized by hypokalemic metabolic alkalosis , hypokalemia , hypomagnesaemia , hypocalciuria , hyperreninemia and without hypertension . 
 gitelman 's syndrome is caused by mutations of the slc12a3 gene , which encodes the na / cl co - transporter ( ncct ) in the distal convoluted tubule . 
 majority of cases manifest during adolescence or adulthood and growth retardation is not the common feature . 
 we report a rare presentation of gitelman 's syndrome in a four - year - old boy with growth retardation .