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 30(th) 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.