A Novel SMAD4 Mutation Causing Severe Juvenile Polyposis Syndrome with Protein Losing Enteropathy, Immunodeficiency, and Hereditary Haemorrhagic Telangiectasia
Joint Authors
Forsberg, Pia
Sahin, Christofer
Pestoff, Rebecka
Edsjö, Anders
Stenmark Askmalm, Marie
Johansson, Joel
Ignatova, Simone
Ekstedt, Mattias
Source
Case Reports in Gastrointestinal Medicine
Issue
Vol. 2015, Issue 2015 (31 Dec. 2015), pp.1-5, 5 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2015-02-01
Country of Publication
Egypt
No. of Pages
5
Main Subjects
Abstract EN
Juvenile polyposis syndrome (JPS) is a rare genetic disorder characterized by juvenile polyps of the gastrointestinal tract.
We present a new pathogenic mutation of the SMAD4 gene and illustrate the need for a multidisciplinary health care approach to facilitate the correct diagnosis.
The patient, a 47-year-old Caucasian woman, was diagnosed with anaemia at the age of 12.
During the following 30 years, she developed numerous gastrointestinal polyps.
The patient underwent several operations, and suffered chronic abdominal pain, malnutrition, and multiple infections.
Screening of the SMAD4 gene revealed a novel, disease-causing mutation.
In 2012, the patient suffered hypoalbuminemia and a large polyp in the small bowel was found.
Gamma globulin was given but the patient responded with fever and influenza-like symptoms and refused more treatment.
The patient underwent surgery in 2014 and made an uneventful recovery.
At follow-up two months later albumin was 38 g/L and IgG was 6.9 g/L.
Accurate diagnosis is essential for medical care.
For patients with complex symptomatology, often with rare diseases, this is best provided by multidisciplinary teams including representatives from clinical genetics.
Patients with a SMAD4 mutation should be followed up both for JPS and haemorrhagic hereditary telangiectasia and may develop protein loosing enteropathy and immunodeficiency.
American Psychological Association (APA)
Johansson, Joel& Sahin, Christofer& Pestoff, Rebecka& Ignatova, Simone& Forsberg, Pia& Edsjö, Anders…[et al.]. 2015. A Novel SMAD4 Mutation Causing Severe Juvenile Polyposis Syndrome with Protein Losing Enteropathy, Immunodeficiency, and Hereditary Haemorrhagic Telangiectasia. Case Reports in Gastrointestinal Medicine،Vol. 2015, no. 2015, pp.1-5.
https://search.emarefa.net/detail/BIM-1058528
Modern Language Association (MLA)
Johansson, Joel…[et al.]. A Novel SMAD4 Mutation Causing Severe Juvenile Polyposis Syndrome with Protein Losing Enteropathy, Immunodeficiency, and Hereditary Haemorrhagic Telangiectasia. Case Reports in Gastrointestinal Medicine No. 2015 (2015), pp.1-5.
https://search.emarefa.net/detail/BIM-1058528
American Medical Association (AMA)
Johansson, Joel& Sahin, Christofer& Pestoff, Rebecka& Ignatova, Simone& Forsberg, Pia& Edsjö, Anders…[et al.]. A Novel SMAD4 Mutation Causing Severe Juvenile Polyposis Syndrome with Protein Losing Enteropathy, Immunodeficiency, and Hereditary Haemorrhagic Telangiectasia. Case Reports in Gastrointestinal Medicine. 2015. Vol. 2015, no. 2015, pp.1-5.
https://search.emarefa.net/detail/BIM-1058528
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1058528