Abstract
A follow-up study has been performed of the 10 patients originally described by Imerslund in 1959, and 4 additional patients, 8 males and 6 females aged 2-41 yrs. The patients have a hereditary, selective malabsorption of vitamin B12, probably due to a block in the transfer of B12 from the enterocyte to the blood, and with intact secretion of intrinsic factor and HCl in the stomach.
On B12 treatment the patients were clinically well with normal neurological status. Hgb, r.b.c. and PCV were in the high normal range. Serum B12 was normal, while serum and red cell folates were in the lower normal range. Proteinuria was present in 12 patients. These excreted on an average 750 mg protein/24 hrs (range 300-1500 mg), mostly of low molecular weight. Two thirds of the protein was albumen. The proteinuria is predominantly glomerular in nature, but the presence in the urine of light chains indicates an affection also of the proximal tubules. Creatinine clearances were normal, inulin clearances moderately decreased, PAH clearances definitely reduced indicating reduced renal blood flow. Kidney biopsies were performed in the two oldest patients (aged 35 and 41 years). Light microscupy did not disclose anything abnormal, but electron microscopy showed mild signs of glomerulonephritis with an increase of mesangial cells and matrix and a thickening of Bowman's capsule.
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Broch, H., Seip, H. & Imerslund, O. IMERSLUND-GRASBECK ANEMIA. Pediatr Res 12, 64 (1978). https://doi.org/10.1203/00006450-197801000-00024
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DOI: https://doi.org/10.1203/00006450-197801000-00024