[Neonatal Bartter disease diagnosed with the detection of a mutation of the KCNJ1 gene which codifies the synthesis of the renal ROMK1 potassium channel].
We report clinical data of a female patient with Bartter's syndrome who was initially diagnosed with idiophatic hypercalciuria and, subsequently, with hyperprostaglandin E, syndrome. The patient was born after premature delivery with a history of polyhydramnios. During the first two years of life, in spite of evidence for significant failure to thrive, polyuria and special tendency to dehydration, she had no hypokalemia. The acid-base balance was normal except metabolic acidosis during the first few days after she was born. When hypercalciuria was observed, she was treated with thiazides and a low-salt diet. With such treatment she frequently showed hypokalemic alkalosis. Afterwards, once it was possible to determine the levels of renin and aldosterone and the urinary excretion of PGE2, we suspected the diagnosis. DNA sequencing analysis showed that the patient carried a homozygotic mutation in the KCNJ1 gene, coding for the potassium channel ROMK, which results in the premature termination of the protein. It is the first time that this mutation has been found in Spain. The detection of this mutation confirmed a disease that was initially of uncertain diagnosis.
García Nieto
V
V
Unidad de Nefrología Pediátrica, Hospital Ntra. Sra. de Candelaria Ctra. del Rosario, s/n. 38010 Santa Cruz de Tenerife.
Müller
D
D
van der Vliet
W
W
Claverie-Martín
F
F
D001477:Bartter Syndrome / Q000175:diagnosis* / Q000235:genetics*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D009154:Mutation; D015221:Potassium Channels / Q000235:genetics*; D024661:Potassium Channels, Inwardly Rectifying
C086989:KCNJ1 protein, human; D015221:Potassium Channels; D024661:Potassium Channels, Inwardly Rectifying