Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0024523 (
malabsorption
)
7,319
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
We present a case of an 18-year-old Caucasian man with a rare autosomal recessive disorder called
autoimmune polyendocrinopathy candidiasis ectodermal dystrophy
(
APECED
). This patient had manifestations of all clinical components of this multisystemic disease which included intestinal failure secondary to autoimmune enteropathy. We present a unique multidisciplinary management for this genetic condition. Although patients with
APECED
do not always have all the disease components (a total of eight exist), the majority have at least 3-5 components. This excludes the psychosexual implications which are often ignored. This case highlights the importance of (1) management of
APECED
in a multidisciplinary nature that includes a gastroenterologist, immunologist, endocrinologist, dietitians, etc and the (2) management of intestinal failure component of
APECED
is best suited in a specialist intestinal failure unit where expertise is available for complex
malabsorption
disorders.
...
PMID:A multidisciplinary approach to management of autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED). 2337 Sep 53
