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A Novel SMAD4 Mutation Causing Severe Juvenile Polyposis Syndrome with Protein Losing Enteropathy, Immunodeficiency, and Hereditary Haemorrhagic Telangiectasia.
Linköping University, Department of Clinical and Experimental Medicine, Division of Neuro and Inflammation Science. Linköping University, Faculty of Medicine and Health Sciences. Region Östergötland, Heart and Medicine Center, Department of Gastroentorology.
Linköping University, Department of Clinical and Experimental Medicine, Division of Neuro and Inflammation Science. Linköping University, Faculty of Medicine and Health Sciences. Region Östergötland, Heart and Medicine Center, Department of Gastroentorology.
Linköping University, Department of Clinical and Experimental Medicine, Division of Cell Biology. Linköping University, Faculty of Medicine and Health Sciences. Region Östergötland, Center for Diagnostics, Department of Clinical Pathology and Clinical Genetics.
Linköping University, Department of Clinical and Experimental Medicine. Linköping University, Faculty of Health Sciences. Region Östergötland, Center for Diagnostics, Department of Clinical Pathology and Clinical Genetics.
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2015 (English)In: Case Reports in Gastrointestinal Medicine, ISSN 2090-6528, E-ISSN 2090-6536, Vol. 2015, 1-5 p., 140616Article in journal (Refereed) Published
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.

Place, publisher, year, edition, pages
2015. Vol. 2015, 1-5 p., 140616
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Gastroenterology and Hepatology
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URN: urn:nbn:se:liu:diva-115933DOI: 10.1155/2015/140616PubMedID: 25705527OAI: oai:DiVA.org:liu-115933DiVA: diva2:797541
Available from: 2015-03-24 Created: 2015-03-24 Last updated: 2017-12-04

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Pestoff, RebeckaIgnatova, SimoneForsberg, PiaEkstedt, MattiasStenmark Askmalm, Marie

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Pestoff, RebeckaIgnatova, SimoneForsberg, PiaEkstedt, MattiasStenmark Askmalm, Marie
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Division of Neuro and Inflammation ScienceFaculty of Medicine and Health SciencesDepartment of GastroentorologyDivision of Cell BiologyDepartment of Clinical Pathology and Clinical GeneticsDepartment of Clinical and Experimental MedicineFaculty of Health SciencesDivision of Microbiology and Molecular MedicineDepartment of Infectious DiseasesDivision of Clinical Sciences
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