Idiopathic Chronic Megaloblastic Anemia in Children

Luminal expression of cubilin is impaired in Imerslund-Grasbeck syndrome with compound AMN mutations in intron 3 and exon 7

“…Initially, the disease was almost simultaneously described in Norway and Finland. 1,2 Usually, IGS is diagnosed in children aged between three and ten years old who present signs of Cbl deficiency and proteinuria without any other cause of cbl malabsorption. IGS remains a rare inherited disorder.…”

Imerslund–Grasbeck Syndrome (selective B12 malabsorption): Think about it also in Down's syndrome!

“…За полвека с момента первого описа-ния зарегистрировано около 300 случаев, не у всех па-циентов заболевание протекает с протеинурией и не всем проведено молекулярно-генетическое подтверж-дение [1][2][3][4][5][6][7][8][9][10][11][12][13]. Наблюдавшемуся нами ребенку диагноз был установлен на основании клинико-лабораторных данных: сочетание протеинурии и В 12 -дефицитной анемии, сроки появления которых соответствуют сведениям литературы [1,8,15] (3) стительная терапия цианокобаламином привела к по-ложительной динамике массоростовых параметров, улучшению показателей крови, уменьшению про-теинурии, что отмечено в других работах [15,16,23]. На наличие протеинурии при синдроме Имерслунд-Гресбека указано другими авторами [24][25][26].…”

“…По результатам световой ми-кроскопии в биоптатах почек у пациентов патологии не выявлено, по результатам электронной микроско-пии обнаруживают признаки мезангиальной про-лиферации клубочков [15]. Реже описаны аномалии развития органов мочевой системы (удвоение моче-точников, подковообразная почка) [1].…”

Genetic heterogeneity of megaloblastic anaemia type 1 in Tunisian patients

“…Therefore, there are some criteria that allow the distinction between patients suffering from MGA1 from those with other megaloblastic anaemia. For the nine Tunisian MGA1 patients reported in the present study, the diagnosis of MGA1 was based on the following established criteria (Grä sbeck et al 1960;Imerslund 1960;Broch et al 1984): (a) appearance of megaloblastic anaemia within the first 8 years of life (age range 9-84 months), (b2) low serum Vit B12 levels by radioimmunoassay, (c3) normal serum folate level, (d4) no evidence of radiological and endoscopic digestive tract abnormalities, (e5) proteinuria was detected in all cases except one in our series, MA2 patient, (f6) and complete haematological response to regular injections of parenteral Vit B12, (g7) The dualisotope Schilling test allowed confirmation of MGA1 by revealing intestinal malabsorption of labelled Vit B12, not corrected by the addition of an exogenous intrinsic factor. Clinical features of the nine patients are given in Table 1.…”

“…Megaloblastic anaemia 1 (MGA1), known as Imerslund-Grä sbeck syndrome, (I-GS) is a rare autosomal recessive condition originally and independently described by Imerslund in Norway (Imerslund 1960) and Grä sbeck and collaborators in Finland (Grä sbeck et al 1960). At the cellular level the disease is a selective intestinal Vit B12 malabsorption defect that is characterized by the frequent association of juvenile megaloblastic anaemia and a benign proteinuria of the tubular type (Grä sbeck 1972;Wahlstedt-Froberg et al 2003).…”