17q12 Microdeletion Syndrome as a Rare Cause of Elevated Liver Enzymes: Case Report and Literature Review

被引：2

作者：

Isa, Hasan M. ^{[1
]}

Salman, Layla I., Jr. ^{[1
]}

Almaa, Zainab A., Jr. ^{[1
]}

Busehail, Mariam Y. ^{[1
]}

Alherz, Zahra A. ^{[2
]}

机构：

[1] Salmaniya Med Complex, Pediat Dept, Manama, Bahrain

[2] Arabian Gulf Univ, Pediat Dept, Manama, Bahrain

来源：

CUREUS JOURNAL OF MEDICAL SCIENCE | 2022年 / 14卷 / 12期

关键词：

bahrain; hnf1b gene; elevated liver enzymes; solitary kidney; 17q12 deletion syndrome; KIDNEY;

D O I：

10.7759/cureus.32233

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

17q12 deletion syndrome is a rare autosomal dominant inherited condition. It results from de novo mutation and can occur without a family history. Hepatocyte nuclear factor-1 beta (HNF1B) and LIM homeobox 1 (LXH1) genes are the most common genes to be deleted in this syndrome. It has unique clinical characteristics involving multiple systems in the body. The most common presentations are usually renal involvement and maturity-onset diabetes of the young type 5 (MODY5). Genetic study is the golden tool to diagnose patients with this syndrome. Our case presents the unique clinical features of 17q12 deletion syndrome along with a literature review.

引用

页数：7

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