Type IV neonatal Bartter syndrome complicated with congenital chloride diarrhea

Abstract

SummaryBackground:Pseudo-Bartter syndrome encompasses a heterogenous group of disorders similar to Bartter syndrome. Sometimes a few status may be nested, as in our case presented here.Case Report:An 8-month-old boy was referred to our hospital with of intractable diarrhea, polyuria, persistent hypokalemia, abdominal distension and failure to thrive. He was born in the 34 6/7 gestational week (GW) to consanguineous parents. In the 30th GW polyhydramnios was verified by ultrasonography. The laboratory results showed hypokalemic-hypochloremic metabolic alkalosis, hyponatremia, and increased urinary loss of chloride, potassium and calcium. An audiogram test revealed complete sensorineural deafness. Ultrasonography revealed medullary nephrocalcinosis in both kidneys. Elevated plasma renin activity and aldosterone were found and a provisional diagnosis of type-IV neonatal Bartter syndrome was made. Treatment with indomethacin, spironolactone and additional intake of NaCl/KCl was initiated. Despite these therapies, the child’s diarrhea persisted but serum potassium concentration normalized, and hypercalciuria and urine output reduced. After determining the high fecal chloride concentration, there was an immediate decompensation of the disease on indomethacin withdrawal, thus a diagnosis of type IV neonatal Bartter syndrome complicated with congenital chloride diarrhea was considered. Indomethacin, spironolactone and supplementary therapies with NaCl/KCl were continued, which resulted in the normalization of serum electrolytes as well as his physical development, but high contents of chloride in urine and faeces and nephrocalcinosis remains unchanged during 1-year follow-up.Conclusions:Because of the clinical and laboratory simulations between the various diseases that lead to hypokalemic-hypochloremic metabolic alkalosis, patients must be evaluated carefully.

Congenital chloride diarrhea in patient with SLC26A2 mutation – analysis of the clinical phenotype and differential diagnosis

“…Therefore, to identify Batter syndrome and CLD, it is necessary to detect the urine and feces electrolyte levels. A main feature of CLD is that the chloride level is higher compared with the sum of the sodium and potassium levels; the stool chloride level is > 90 mmol/l after the treatment [11][12][13][14]. Without therapy, the stool chloride level is < 40 mmol/l, suggesting severe dehydration [15].…”

Secondary hyperaldosteronism and medullary nephrocalcinosis caused by self-administered and uncontrolled laxative use in an adolescent patient

“…Различают три основных варианта синдрома Барттера в зависимости от повреждения почечных канальцев [8]: a) неонатальный (инфантильный), который протекает с нефрокальцинозом и гиперкальциурией; b) классический, который чаще всего проходит без нефрокальциноза, но с задержкой роста; c) синдром Гительмана с клиникой скелетно-мышечных расстройств и гипокальциурией.…”

“…Подчеркнем, что при проведении дифференциальной диагностики вторичного гиперальдостеронизма нужно помнить в том числе о несахарном диабете, нервной анорексии, синдроме Барттера и Барттер-подобном синдроме [8,9].…”

“…Подобные особенности водно-солевого обмена, медуллярный нефрокальциноз в сочетании с гиперкальциурией схожи с синдромом Барттера или схожим состоянием, называемым Барттер-подобным синдромом или синдромом псевдо-Барттера (англ. Bartter-like syndrome, pseudo-Bartter syndrome) [1][2][3][4][5][6][7][8] и характерны для одного из вариантов вторичного гиперальдостеронизма. Причиной этого состояния может быть длительный прием слабительных или мочегонных средств.…”