Type IV Bartter syndrome: report of two new cases
Type IV Bartter syndrome: report of two new cases
复制标题
IV型巴特综合征：两例新病例报告
DOI：
10.1007/s00467-006-0090-x
复制
发表时间：
2006
影响因子：
3
通讯作者：
F. Emma
中科院分区：
文献类型：
--
作者：
M. Zaffanello;A. Taranta;A. Palma;A. Bettinelli;G. Marseglia;F. Emma
Bartter综合征伴感音神经性耳聋（IV型Bartter综合征）是这种肾小管疾病的一种亚型，是由于BSND基因突变引起的。在92名巴特综合征患者中，有5名患有轻度至重度听觉减退，并被选择进行突变筛查。在两名女性患者中发现了BSND基因的纯合突变。发现第一个患者在内含子1供体剪接位点的+5位（c.420+5G>C）处有替换，而第二个患者有纯合的3G>A替换，导致BSNDmRNA翻译的起始密码子丢失。这两名患者的临床过程是显着的严重羊水过多，大量的肾盐和水浪费，严重的新生儿张力减退，生长不良和前列腺素抑制剂无反应。利尿反应呋塞米和氢氯噻嗪进行了测试下氯化钾补充在一个病人。对两种药物均无反应表明，IV型Bartter综合征对NaCl重吸收的抑制作用并不局限于Henle的粗升支。在一名患者中，需要吲哚美辛和卡托普利的联合治疗来停止静脉输液并改善体重增加。
Bartter syndrome with sensorineural deafness (type IV Bartter syndrome) is a subtype of this tubular disease, and is due to mutations in theBSNDgene. Out of a population of 92 patients with Bartter syndrome, five suffered from mild to severe hypoacusia and were selected for mutational screening. A homozygous mutation in theBSNDgene was found in two female patients. The first patient was found to have a substitution in intron 1 donor splice site at position +5 (c.420+5G>C), whereas the second patient has a homozygous 3G>A substitution leading to the loss of the start codon for the translation of theBSNDmRNA. The clinical courses of these two patients were remarkable for severe polyhydramnios, massive renal salt and water wasting, severe neonatal hypotonia, poor growth and unresponsiveness to prostaglandin inhibitors. The diuretic responses to furosemide and to hydrochlorothiazide were tested under KCl supplementation in one patient. A lack of response to both drugs suggested that inhibition of NaCl reabsorption in type IV Bartter syndrome is not restricted to the thick ascending limb of Henle. In one patient, a combined therapy with indomethacin and captopril was needed to discontinue intravenous fluids and improve weight gain.