A case surviving for over a year of renal tubular dysgenesis with compound heterozygous angiotensinogen gene mutations
A case surviving for over a year of renal tubular dysgenesis with compound heterozygous angiotensinogen gene mutations
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DOI：
10.1002/ajmg.a.31448
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发表时间：
2006-11-01
影响因子：
2
通讯作者：
Tsuchiya, Shigeru
中科院分区：
文献类型：
--
作者：
Uematsu, Mitsugu;Sakamoto, Osamu;Tsuchiya, Shigeru
肾小管发育不全（RTD）是Potter综合征患者中发现的肾近端小管发育异常。我们报告一名女婴与RTD谁已经存活超过18个月。新生儿早期输注新鲜冷冻血浆（FFP）可有效升高和维持血压。需要腹膜透析，直到出生后29天出现自发排尿。肾脏组织学检查显示肾小管腔扩张，肾小管内有泡沫样柱状上皮细胞。内分泌学研究表明，低血浆肾素活性（< 0.1 ng/ml/hr）和高活性肾素浓度（135，000 pg/ml）之间存在差异，表明肾素底物血管紧张素原存在畸变。直接测序分析发现血管紧张素原基因（AGT）编码区存在两个新的突变：外显子2无义突变（c.604C > T）和外显子5第1290位核苷酸移码缺失（c.1290delT）。突变处于复合杂合状态，因为每个亲本都有每个突变。提示血管紧张素原缺乏是RTD的病因之一。用FFP治疗这种疾病可能有助于促进长期生存。(c)2006威利-利斯公司
Renal tubular dysgenesis (RTD) is a developmental abnormality of the renal proximal tubules found in patients with Potter syndrome. We report a female newborn with RTD who has survived for more than 18 months. Infusions of fresh frozen plasma (FFP) in the early neonatal period were effective in raising and maintaining her blood pressure. Peritoneal dialysis was required until the appearance of spontaneous urination at 29 days after birth. Histopathological examinations of the kidney revealed dilated renal tubular lumina and foamy columnar epithelial cells in the renal tubules. Endocrinological studies showed a discrepancy between low plasma renin activity (< 0.1 ng/ml/hr) and high active renin concentration (135,000 pg/ml), suggesting an aberration in the renin substrate, angiotensinogen. Direct sequencing analysis revealed two novel mutations in the coding region of the angiotensinogen gene (AGT): a nonsense Mutation in exon 2 (c.604C > T) and a frameshift deletion at nucleotide 1290 in exon 5 (c.1290delT). The mutations were in the compound heterozygous state, because each parent had each mutation. These findings suggest that angiotensinogen deficiency is one of the causes of RTD. A treatment of the condition with FFP may help to promote long survival. (c) 2006 Wiley-Liss, Inc.