Srpski arhiv za celokupno lekarstvo 2011 Volume 139, Issue 9-10, Pages: 677-680
https://doi.org/10.2298/SARH1110677I
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Pseudo-Bartter syndrome in an infant with congenital chloride diarrhoea
Igrutinović Zoran (Pedijatrijska klinika, Klinički centar, Kragujevac + Medicinski fakultet, Kragujevac)
Peco-Antić Amira (Medicinski fakultet, Beograd + Univerzitetska dečja klinika, Beograd)
Radlović Nedeljko (Medicinski fakultet, Beograd + Univerzitetska dečja klinika, Beograd)
Vuletić Biljana (Pedijatrijska klinika, Klinički centar, Kragujevac + Medicinski fakultet, Kragujevac)
Marković Slavica (Pedijatrijska klinika, Klinički centar, Kragujevac + Medicinski fakultet, Kragujevac)
Vujić Ana (Pedijatrijska klinika, Klinički centar, Kragujevac + Medicinski fakultet, Kragujevac)
Rašković Zorica (Pedijatrijska klinika, Klinički centar, Kragujevac)
Introduction. Pseudo-Bartter syndrome encompasses a heterogenous group of
disorders similar to Bartter syndrome. We are presenting an infant with
pseudo-Bartter syndrome caused by congenital chloride diarrhoea. Case
Outline. A male newborn born in the 37th gestational week (GW) to young
healthy and non-consanguineous parents. In the 35th GW a polyhydramnios with
bowel dilatation was verified by ultrasonography. After birth he manifested
several episodes of hyponatremic dehydration with hypochloraemia,
hypokalaemia and metabolic alkalosis, so as Bartter syndrome was suspected
treatment with indomethacin, spironolactone and additional intake of NaCl was
initiated. However, this therapy gave no results, so that at age six months
he was rehospitalized under the features of persistent watery diarrhoea,
vomiting, dehydration and acute renal failure (serum creatinine 123 μmol/L).
The laboratory results showed hyponatraemia (123 mmol/L), hypokalaemia (3.1
mmol/L), severe hypochloraemia (43 mmol/L), alcalosis (blood pH 7.64,
bicarbonate 50.6 mmol/L), high plasma renin (20.6 ng/ml) and aldosterone
(232.9 ng/ml), but a low urinary chloride concentration (2.1 mmol/L). Based
on these findings, as well as the stool chloride concentration of 110 mmol/L,
the patient was diagnosed congenital chloride diarrhoea. In further course,
the patient was treated by intensive fluid, sodium and potassium
supplementation which resulted in the normalization of serum electrolytes,
renal function, as well as his mental and physical development during 10
months of follow-up. Conclusion. Persistent watery diarrhoea with a high
concentration of chloride in stool is the key finding in the differentiation
of congenital chloride diarrhoea from Bartter syndrome. The treatment of
congenital chloride diarrhoea consists primarily of adequate water and
electrolytes replacement.
Keywords: pseudo-Bartter syndrome, congenital chloride diarrhoea, diagnostics
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