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)
Apeced syndrome is a rare disease, with autosomal recessive transmission and associated with mutations of the
AIRE
gene, which is involved in central and peripheral immune tolerance mechanisms. Its diagnosis is classically based on the combination of any two of the following three major criteria: chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune chronic adrenocortical insufficiency (Addison disease). One single criterion is sufficient to diagnosis a sibling of a patient already diagnosed. Because of its great phenotypic variability, some atypical or oligosymptomatic forms may not be recognized. In the presence of one of the three major criteria, it is thus important to look for other clinical manifestations--digestive, cutaneous (including keratinized appendages) and ophthalmological (until then considered minor). In these atypical forms, the diagnosis depends on molecular genetics. Prognosis is influenced by different factors that may be genetic (
AIRE
mutations, HLA), hormonal (sex) or environmental (infections). Potentially fatal disease (hepatitis or severe
malabsorption
) requires immunosuppressant therapy. Before beginning this aggressive treatment, underlying infectious foci, especially of candidiasis, must be sought and treated to prevent the development of extremely serious systemic infections in this context. A workup for splenic atrophy is also recommended.
...
PMID:[Apeced syndrome or autoimmune polyendocrine syndrome Type 1]. 1829 18
Hydrogen (H
2
) measurement in exhaled breath is a reliable and non-invasive method to diagnose carbohydrate
malabsorption
. Currently, breath H
2
measurement is typically limited to clinic-based equipment. A portable breath analyser (
AIRE
, FoodMarble Digestive Health Limited, Dublin, Ireland) is a personalised device marketed for the detection and self-management of food intolerances, including lactose
malabsorption
(LM). Currently, the validity of this device for breath H
2
analysis is unknown. Individuals self-reporting dairy intolerance (six males and six females) undertook a lactose challenge and a further seven individuals (all females) underwent a milk challenge. Breath samples were collected prior to and at frequent intervals post-challenge for up to 5 h with analysis using both the
AIRE
and a calibrated breath hydrogen analyser (BreathTracker, QuinTron Instrument Company Inc., Milwaukee, WI, USA). A significant positive correlation (
p
< 0.001, r > 0.8) was demonstrated between
AIRE
and BreathTracker H
2
values, after both lactose and milk challenges, although 26% of the
AIRE
readings demonstrated the maximum score of 10.0 AU. Based on our data, the cut-off value for LM diagnosis (25 ppm H
2
) using
AIRE
is 3.0 AU and it is effective for the identification of a response to lactose-containing foods in individuals experiencing LM, although its upper limit is only 81 ppm.
...
PMID:Validity of a Portable Breath Analyser (AIRE) for the Assessment of Lactose Malabsorption. 3131 25
