Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0024530 (malaria)
 44,886 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Hyper reactive malarial splenomegaly (HMS) is a relatively rare chronic complication of malaria. Previous name of the disease was Tropical splenomegaly syndrome (TSS). It is seen in endemic zone of malaria. In Bangladesh it is very rare. It is more prevalent in Africa, India, Sri Lanka, Thailand etc. It is due to abnormal immune response to malaria. Recently we got a typical case of HMS in our pediatric department of Community Based Medical College Hospital (CBMCH) Mymensingh. The patient, a seven years old boy came from Haluaghat, Mymensingh, which is a hyper endemic zone of malaria. The boy had history of repeated attack of malaria with huge chronic splenomegaly for five years. Antibody to malaria was positive & titer was markedly raised. Other causes of massive splenomegaly namely chronic Kala azar, Typhoid, congenital hemolytic anemia, Leukaemia, Lymphoma etc were excluded by laboratory examination. The boy was discharged with malaria prophylaxis for a long time & advised to come to our unit every month for further follow up.
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PMID:Hyper reactive malarial splenomegaly (HMS). 1687 6

Pyruvate kinase (PK) deficiency is the most common defect of the glycolytic pathway leading to congenital hemolytic anemia. We present the case of an 18-year-old boy with chronic nonspherocytic hemolytic anemia, who had remarkable sensitivity to heat. Moreover, the patient showed clinical impairment in the last year. For this reason, we excluded the immunologic or infectious nature (malaria, babesia), which may play a role in the worsening of anemia. Red blood cell enzyme assay showed the presence of a significant increase in other enzyme activities, except for PK, suggesting a PK deficiency in the patient. The molecular analysis of the PK-LR gene revealed the presence of a novel homozygote missense mutation (c.581G>C, p.Arg194Pro). The mutant enzyme displayed heat instability. In addition, we analyzed bilirubin uridine diphosphate (UDP)-glucuronosyltransferase 1A1 gene that revealed a heterozygous state ([TA]6/[TA]7). After a clear diagnosis of PK deficiency, the patient underwent splenectomy.
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PMID:A Case With Pyruvate Kinase Deficiency Remarkably Sensitive to Heat. 2930 76