[Bartter's syndrome in children and adults. Study of 6 cases].
Six patients (3 children and 3 adults) with the clinical and biochemical features of Bartter's syndrome are presented. Pediatric cases included a more severe form, in one patient, with physical and mental retardation, hypercalciuria and nephrocalcinosis, and a less severe one, including two patients, with milder clinical features, low calcium and high magnesium excretion and hypomagnesiemia. Adult patients were affected by either the mild congenital form (case n. 4) or the acquired variety (cases n.5 and 6). Tubular function was investigated in the 3 adults by assessing clearance measurements during maximal diuresis. There was a defective fractional distal solute reabsorption (FDR) ranging between 0.52 and 0.60. This was well below the results obtained in one patient with psychogenous vomiting (FDR 0.94) and comparable to those in two patients with interstitial nephropathies caused by vesico-ureteral reflux (FDR 0.63 and 0.67 respectively). We concluded that: 1) the etiopathogenetic spectrum of Bartter's syndrome corresponds to different clinical presentation (mild, heavy, congenital or acquired varieties), and alterations in mineral and electrolyte renal handling; 2) reduction in FDR is a feature neither essential nor exclusive of this syndrome.
Bruno
M
M
Divisione di Nefrologia e Dialisi, Ospedale Mauriziano Umberto I, Torino.
Tricerri
A
A
Manganaro
M
M
Cosseddu
D
D
Vitale
C
C
Gabella
P
P
Suria
G
G
Ferrari
G
G
Linari
F
F
D000328:Adult; D001477:Bartter Syndrome / Q000175:diagnosis; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008297:Male