Journal/Magazine Articles

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This collection contains original research articles, review articles and case reports published in local and international peer reviewed journals by the staff members of the Faculty of Medicine

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Author: search.filters.author.Bandara, P.Subject: search.filters.subject.Hypoproteinaemia

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    A novel mutation in the SLCO2A1 gene presenting as persistent hypoproteinaemia and refractory iron deficiency anaemia due to chronic enteropathy: A case report
    (BioMed Central, 2024-11) Mettananda, S.; Bandara, P.; Rajeindran, M.; Padeniya, P.
    BACKGROUND The SLCO2A1 gene encodes a prostaglandin transporter and we report a novel mutation causing hypoproteinaemia and refractory anaemia due to chronic enteropathy.Case PRESENTATION An 18-year-old boy of consanguineous parents was investigated for hypoproteinaemia and anaemia. He was short, pale and had generalised oedema. Investigations revealed haemoglobin 5.8 g/dL; hypochromic microcytic anaemia; low serum protein, albumin, globulin, ferritin and iron. Bone marrow aspiration revealed low iron stores. Upper and lower gastrointestinal endoscopies showed moderate gastritis, duodenitis, and non-specific patchy inflammation in the rectum. The whole exome sequencing revealed a homozygous missense mutation in SCLO2A1 gene (NP_005621.2:p.Arg97Cys; rs761212094). Sanger sequencing of the sibling with milder phenotype revealed same homozygous mutation, and carrier father was heterozygous.CONCLUSION We report a novel mutation of SLCO2A1 gene causing severe persistent hypoproteinaemia and refractory iron deficiency anaemia due to chronic enteropathy helping to delineate genotype-phenotype correlation of SLCO2A1 variants.