Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0020639 (hypoproteinemia)
 1,134 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

An adolescent boy presented to pediatrics outpatient department with complaints of recurrent diarrhea, nausea, vomiting, and pedal edema since 3-4 months, with no relief even after taking treatment. His investigation revealed decreased serum IgA, IgG, and IgM levels with hypoproteinemia. Duodenal biopsy showed features of celiac disease (CD), but tissue transglutaminase IgA was negative. In stool examination, plenty of Giardia lamblia cysts and eggs of Hymenolepis nana were present. He improved on treatment and remained asymptomatic for 4 months. However, he again developed symptoms and succumbed to his illness. In patients of common variable immunodeficiency (CVID), who present with features of CD, coinfection, especially with G. lamblia and other parasites must always be kept in mind. The aim is to report a case of recurrent giardiasis with CVID mimicking CD from Western Rajasthan, India.
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PMID:Giardiasis mimicking celiac disease in a patient of common variable immunodeficiency. 2911 94

A 20 year old male with past medical history of Type 1 Diabetes and Hypothyroidism presented to our hospital with severe hypocalcemia. His calcium was 5.8 mg/dl (normal range 8.6-10.3 mg/dl). He had been complaining of generalized weakness for weeks. Vital signs were within normal limits. Physical exam was significant for positive Chvostek sign. Other labs revealed low magnesium, low potassium, low vitamin D, low albumin, metabolic acidosis and low ferritin. He was started on supplements. Tissue transglutaminase antibody IgG was elevated. Upper gastrointestinal endoscopy showed scalloped and blunted duodenal mucosa. Duodenal biopsy showed villous blunting with intraepithelial lymphocytosis suggestive of celiac disease. He was started on gluten free diet. His symptoms improved and he was discharged home. Celiac disease can present in fulminant form with hemodynamic instability and is called celiac crisis. Celiac crisis is usually manifested by severe gastrointestinal manifestations, hypoproteinemia and metabolic and electrolyte disturbances requiring hospitalization. It is diagnosed by criteria proposed by Jamma et al. Celiac crisis is a rare presentation of celiac disease and is associated with high morbidity and mortality. Most of the cases respond to gluten withdrawal and nutritional suport and few require steroids. Abbreviation: Type 1 DM -Type 1 Diabetes Mellitus.
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PMID:A case of celiac disease presenting with celiac crisis: rare and life threatening presentation. 3078 70