Alport Syndrome
Alport Syndrome
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DOI：
10.1007/978-3-642-19677-5_2
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发表时间：
2017
期刊：
影响因子：
3.9
通讯作者：
Jane W. Kimani;K. Weck
中科院分区：
文献类型：
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作者：
Jane W. Kimani;K. Weck
A.K.是一个5岁的男孩谁提出了儿科肾病诊所与最近发现显微镜血尿和蛋白尿的常规筛选。两周后重复分析，持续血尿和蛋白尿。全血细胞计数（CBC）和代谢组（Chem-7）均正常。进行了肾脏超声检查，结果也正常，无肾积水。A.K.有一个两岁的弟弟，没有健康问题。A.K.'她的父亲38岁，没有健康问题。A.K.'父亲的兄弟姐妹和父母都很健康，没有肾脏问题。A.K.'他父亲的兄弟有一个儿子，七岁时还很健康。A.K.'她的母亲在37岁时很健康。她有一个兄弟和两个姐妹篇，他们都没有任何肾脏问题。她的一个姐妹篇有一个儿子和一个女儿;儿子，六岁，大约一年前在试纸上发现了蛋白尿，但他没有被转诊给肾病学家。A.K.'他的外祖父身体健康，祖母在60岁时因心肌梗塞去世。
A.K. was a 5-year-old boy who presented to the pediatric nephrology clinic with a recent finding of microscopic hematuria and proteinuria on routine screening. The analysis was repeated two weeks later with persistence of hematuria and proteinuria. A complete blood count (CBC) and a metabolic panel (Chem-7) were both normal. Renal ultrasound was performed which was also normal and without hydronephrosis. A.K. had one younger brother who was two years old with no health problems. A.K.’s father was 38 years old and had no health concerns. A.K.’s father’s brother, sister, and parents were all healthy, with no renal concerns. A.K.’s father’s brother had one son who was healthy at seven years. A.K.’s mother was healthy at 37 years. She had one brother and two sisters, none of whom had any renal concerns. One of her sisters had a son and a daughter; the son, who was six years old, had proteinuria found on dipstick about a year ago, but he has not been referred to a nephrologist. A.K.’s maternal grandfather was healthy and his grandmother died of myocardial infarction at the age of 60.