Shwachman-diamond syndrome: Are we missing many?

被引：2

作者：

Kathuria, Rachana ^{[1
]}

Poddar, Ujjal ^{[1
]}

Yachha, Surender Kumar ^{[1
]}

机构：

[1] Sanjay Gandhi Postgrad Inst Med Sci, Dept Pediat Gastroenterol, Lucknow 226014, Uttar Pradesh, India

来源：

INDIAN PEDIATRICS | 2012年 / 49卷 / 09期

关键词：

Lipomatosis; Pancreatic insufficiency; Shwachman syndrome; TRANSPLANTATION;

D O I：

10.1007/s13312-012-0138-x

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Shwachman-Diamond Syndrome (SDS) is a rare inherited disorder characterized by pancreatic insufficiency, bone marrow dysfunction and skeletal abnormalities. It is the most common cause of pancreatic insufficiency in children after cystic fibrosis. We report a child with classical SDS who presented to us predominantly with chronic diarrhea along with delayed growth and neutropenia.

引用

页码：748 / 749

页数：2

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