Mitchell-Riley Syndrome Due to a Novel Mutation in RFX6

被引：9

作者：

Kambal, Mohammed Abdulmageed ^{[1
]}

Al-Harbin, Doha Ayed ^{[2
]}

Al-Sunaid, Areej Rashed ^{[3
]}

Al-Atawi, Mohsen Suliaman ^{[4
]}

机构：

[1] King Saud Univ, King Khalid Univ Hosp, Pediat Dept, Div Pediat Gastroenterol, Riyadh, Saudi Arabia

[2] King Abdullah Specialist Childrens Hosp, Div Pediat Endocrinol & Diabet, Riyadh, Saudi Arabia

[3] King Abdullah Specialist Childrens Hosp, Div Gastroenterol Hapatol & Nutr, Riyadh, Saudi Arabia

[4] King Saud bin Abdulaziz Univ Hlth Sci KSAU HS, King Abdullah Specialist Childrens Hosp, Minist Natl Guard Hlth Affairs, Riyadh, Saudi Arabia

来源：

FRONTIERS IN PEDIATRICS | 2019年 / 7卷

关键词：

duodenal atresia; congenital; neonatal diabetes mellitus (NDM); cholestasis; regulatory factor X6 (RFX6); c.983A > T p.(asp328Val); homozygous; MODY (maturity-onset of diabetes in the young); INTESTINAL ATRESIA; DIABETES-MELLITUS; ONSET; VARIANTS; GENE;

D O I：

10.3389/fped.2019.00243

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

We report a Saudi girl who presented at birth with neonatal diabetes, duodenal atresia, and progressive cholestasis. After other gene testing was negative, the clinical diagnosis of Mitchell-Riley syndrome was ultimately considered and further genetic analysis revealed a novel missense homozygous variant in RFX6: c.983A>T (p.asp328Val). Despite intensive management, the patient died from severe Klebsiella pneumoniae sepsis at 5 months of age. This rare syndrome should be suspected in any neonate with hyperglycemia complicated by intestinal atresia and/or progressive cholestasis that could suggest biliary hypoplasia. Early recognition and diagnosis through genetic testing are essential for guiding aggressive clinical management as well as family counseling, particularly in light of the high possibility of early death in this highly complex disorder.

引用

页数：4

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