Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0024523 (malabsorption)
 7,319 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A previously undescribed fatal multisystem syndrome involving the eyes, ears, lungs, intestines, and kidneys occurred in sibs. They both presented during early childhood with cataracts, otitis media, intestinal malabsorption, chronic respiratory infection, and failure to thrive. Later, they developed recurrent pneumonia (one was shown to have immotile bronchial cilia) and progressive azotemia leading to end-stage renal disease (ESRD) by late childhood. Both died of overwhelming infection (sepsis, meningitis). An autosomal recessive mode of inheritance is proposed since the normal parents were distant cousins, and 4 other sibs were normal.
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PMID:New syndrome involving the visual, auditory, respiratory, gastrointestinal, and renal systems. 144 88

A ten year old boy was referred to the allergy clinic due to a chronic history of upper respiratory infections, otitis media, recurrent sinusitis, wheezing and chronic cough that initiated at six years of age. He did have some very small lymph nodes in the cervical area. Serum immunoglobulins were very low which suggested the diagnosis of a common variable immuno-deficiency, a disease with features of increased susceptibility to infection, diarrhea, malabsorption and major complications that include bronchiectasis, autoantibody formation, and autoimmune disease. The patient received IVIG and has doing well.
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PMID:[Common variable immunodeficiency. Report of a case and review of the literature]. 898 47