Multiple endocrine neoplasia and very early onset inflammatory bowel disease. An unexpected association

被引：0

作者：

Rossi, Santiago i. ^{[1
]}

Baleani, Silvia ^{[1
]}

Prado, Ximena ^{[1
]}

Pascual, Carolina ^{[1
]}

Tennina, Cecilia ^{[2
]}

Malagrino, Pablo ^{[2
]}

Vieites, Ana ^{[3
]}

Parra, Alejandro ^{[4
]}

Cazalla, Mario ^{[4
]}

Castano, Jair tenorio ^{[4
]}

Lapunzina, Pablo ^{[4
]}

机构：

[1] Hosp Ninos Dr Ricardo Gutierrez, Unidad 5, Clin Med, Gallo 1330, RA-1425 Buenos Aires, Argentina

[2] Hosp Ninos Dr Ricardo Gutierrez, Secc Gastroenterol, Buenos Aires, Argentina

[3] CONICET FEI Hosp Ninos Ricardo Gutierrez, Ctr Invest Endocrinol Dr Cesar Bergada, Buenos Aires, Argentina

[4] Univ Autonoma, Hosp Univ Paz, Ctr Invest Biomed Red Enfermedades Raras, Inst Genet Med & Mol INGEMM IdiPAZ,CIBERER,ISCIII, Madrid, Spain

来源：

MEDICINA-BUENOS AIRES | 2024年 / 84卷 / 02期

关键词：

very early onset inflammatory bowel dis ease; RET proto-oncogene; multiple endocrine neoplasia 2A; primary immunodeficiency; PEDIATRIC GASTROENTEROLOGY; POSITION PAPER; MANAGEMENT; HEPATOLOGY; MUTATION; GENETICS; SOCIETY;

D O I：

暂无

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Very early onset inflammatory bowel disease (VEOIBD) is a rare entity in pediatrics. Its association with primary immunodeficiencies of monogenic origin is known. We present the case of a patient diagnosed with VEOIBD who underwent massive paralleled exome sequencing. The result of the study showed a pathogenic variant in the RET proto-oncogene, associated with multiple endocrine neoplasia type 2A disease. There are no previous reports of association of RET proto-oncogene variants with VEOIBD. The presence of these two clinical entities cannot be attributed to a single genetic cause.

引用

页码：347 / 350

页数：4

共 15 条

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