The neonatal variant of Bartter syndrome and deafness: preservation of renal function.
The neonatal variant of Bartter syndrome and deafness: preservation of renal function.
复制标题
巴特综合征和耳聋的新生儿变异：肾功能的保留。
作者：
H. Shalev;M. Ohali;L. Kachko;D. Landau
背景
BACKGROUND
A subtype of antenatal Bartter syndrome and sensorineural deafness (BSND) was originally described among families from southern Israel, and its gene (Barttin, OMIM #606412) has recently been identified. A report has suggested that these children develop chronic renal insufficiency during childhood attributable to chronic tubulointerstitial fibrosis and atrophy.
METHODS
Data from 13 infants with BSND, who were born during a 20-year period in our institution, were retrospectively analyzed.
RESULTS
All pregnancies were complicated by polyhydramnion and premature birth. All patients have sensorineural deafness, as well as hypokalemic metabolic alkalosis. Persistent hypercalciuria or nephrocalcinosis were absent in most children. All children have been treated with indomethacin (2 mg/kg/d) and potassium supplementation. The current average serum creatinine and calculated creatinine clearance from the older group (n = 8; mean age: 8.8 +/- 1.4 years) is 60.8 +/- 16.5 micro mol/L and 95 +/- 20 mL/min/1.73m(2), respectively. Kidney biopsies from two 7-year-old patients revealed mild focal tubulointerstitial fibrosis and minimal mesangial proliferation but no glomerulosclerosis.
CONCLUSIONS
Early renal function deterioration is not a uniform finding among children with BSND mutations.
婴儿 Bartter 综合征与感音神经性耳聋与 1p 染色体的联系。
影响因子：
9.8
作者：
Brennan,TM;Landau,D;Shalev,H;Lamb,F;Schutte,BC;Walder,RY;Mark,AL;Carmi,R;Sheffield,VC
通讯作者：
Sheffield,VC