Imerslund-Grasbeck syndrome in a 5-year-old Iranian boy

Imerslund-Grasbeck syndrome (IGS) is a rare syndrome characterized by clinical symptoms and signs of Vitamin B 12 deficiency and proteinuria. Our patient was a 5-year-old boy with pallor, lack of appetite, and low weight gain. Laboratory studies showed severe macrocytic anemia, normal reticulocyte c...

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Bibliographic Details
Published inIndian journal of nephrology Vol. 26; no. 6; pp. 455 - 457
Main Authors Goudarzipour, K, Zavvar, N, Behnam, B, Ahmadi, M
Format Journal Article
LanguageEnglish
Published India Wolters Kluwer India Pvt. Ltd 01.11.2016
Medknow Publications and Media Pvt. Ltd
Medknow Publications & Media Pvt. Ltd
Medknow Publications & Media Pvt Ltd
Subjects
Anemia
Care and treatment
Case Report
Case studies
Conflicts of interest
Diagnosis
Kidney diseases
Laboratories
Vitamin B
India
Imerslund-Grasbeck syndrome
pessary cell
proteinuria
megaloblastic anemia
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Summary:Imerslund-Grasbeck syndrome (IGS) is a rare syndrome characterized by clinical symptoms and signs of Vitamin B 12 deficiency and proteinuria. Our patient was a 5-year-old boy with pallor, lack of appetite, and low weight gain. Laboratory studies showed severe macrocytic anemia, normal reticulocyte count, negative direct coombs test, normal osmotic fragility, and autohemolysis test. He has had intermittent proteinuria since 3 years ago despite normal creatinine level and absence of hematuria or hypertension. Finally, based on low level of serum B 12 vitamin and normal folate level accompanied by asymptomatic proteinuria, the diagnosis of IGS was made. Furthermore, his sister has had laboratory abnormalities without any symptoms. IGS responded to B 12 replacement therapy dramatically but intermittent proteinuria persisted even after appropriate therapy.
ISSN:0971-4065
1998-3662
DOI:10.4103/0971-4065.175984