Expansion of the ophthalmic phenotype of SPINT2-related syndromic congenital sodium diarrhea

Ernst Julia; Hiasat Jamila; Alabek Michelle L.; Scanga Hannah L.; Motley William; Nischal Ken K.

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Expansion of the ophthalmic phenotype of SPINT2-related syndromic congenital sodium diarrhea

机译：扩增纺丝症相关综合征先天性先天性腹泻眼科学表型

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A 5-year-old girl presented with treatment-refractory dry eye and recurrent episodes of eye pain. She had been previously diagnosed with syndromic congenital sodium diarrhea (SCSD) caused by a pathogenic variant in SPINT2. Her local pediatric ophthalmologist had made the diagnosis of severe dry eye with corneal erosions, based on which, we arranged an eye exam under anesthesia (EUA) and punctal plug placement. Anterior segment optical coherence tomography (OCT) and corneal photographs were taken during the procedure. There are reports describing similar ophthalmic findings in this syndrome. However, to the best of our knowledge, this is the first case report to document OCT imaging and corneal photographs in a patient with SCSD, which we feel expands the ophthalmic phenotype of this rare genetic disorder.

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来源
《American journal of medical genetics, Part A》 |2021年第4期|共5页
作者
Ernst Julia; Hiasat Jamila; Alabek Michelle L.; Scanga Hannah L.; Motley William; Nischal Ken K.;
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作者单位

UPMC Childrens Hosp Pittsburgh Eye Ctr Pittsburgh PA 15224 USA;

UPMC Childrens Hosp Pittsburgh Eye Ctr Pittsburgh PA 15224 USA;

UPMC Childrens Hosp Pittsburgh Eye Ctr Pittsburgh PA 15224 USA;

UPMC Childrens Hosp Pittsburgh Eye Ctr Pittsburgh PA 15224 USA;

Cincinnati Childrens Hosp Div Pediat Ophthalmol Cincinnati OH USA;

UPMC Childrens Hosp Pittsburgh Eye Ctr Pittsburgh PA 15224 USA;

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原文格式 PDF
正文语种 eng
中图分类医学遗传学;
关键词
optical coherence tomography; photophobia; recurrent corneal erosions; SPINT2; syndromic congenital sodium diarrhea;

机译：光学相干性断层扫描;噬菌体;复发性角膜糜烂;Spint2;综合征先天性腹泻;

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7. Mutations in SPINT2 cause a syndromic form of congenital sodium diarrhea. [J] . Heinz-Erian P, Muller T, Krabichler B, The American Journal of Human Genetics . 2009,第2期

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机译：SPINT2中的突变导致先天性腹泻的综合征形式。
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机译：表皮神经综合征与先天性囊性发育不良肾脏与多种肾细胞增殖相关的新病例。

Expansion of the ophthalmic phenotype of SPINT2-related syndromic congenital sodium diarrhea

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