Urinary Excretion of Intrinsic Factor and the Receptor for Its Cobalamin Complex in Gräsbeck-Imerslund Patients: The Disease May Have Subsets

Dugué, Benoît; Ismail, E. A. R.; Sequeira, Fatima; Thakkar, Jitendra; Gräsbeck, Ralph

doi:10.1097/00005176-199908000-00025

Cited by 6 publications

(9 citation statements)

References 23 publications

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“…Mild proteinuria without clear-cut kidney lesion is often, but not always, detectable, and different quantities of Cbl-IF receptor activity have been measured in the urines of patients with the Gräsbeck-Imerslund disease [3,6]. Defective or absent cubilin can be considered to explain the proteinuria [7] in the Finnish patients, who were shown to be homozygous for two mutations, FM1 (one amino acid change, normal size cubilin) and FM2 (disrupted synthesis, no cubilin), or compound heterozygous for the FM1-FM3 (not identified) mutations of the cubilin gene located on chromosome 10 [8].…”

Section: Introductionmentioning

confidence: 99%

Proteinuria in cubilin-deficient patients with selective vitamin B12 malabsorption

et al. 2003

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Selective vitamin B 12 malabsorption or Gräsbeck-Imerslund disease (megaloblastic anemia 1) is frequently accompanied by proteinuria. The malabsorptionproteinuric syndrome of Finnish patients is caused by a defect in the multiligand receptor cubilin. We studied the urinary proteins of control subjects and 13 adult patients with three defined cubilin mutations (FM1, FM2, FM3), all diagnosed during childhood and subsequently observed. The overall kidney function was unimpaired and did not deteriorate with time. The excretion of total protein and albumin, and to lesser extent of transferrin, immunoglobulin light chains, and α 1 -and β 2 -microglobulins, was clearly elevated in 3 patients, mildly elevated in 3, and hardly or not at all increased in the rest. The urinary cobalamin-intrinsic factor receptor was low in 5 patients studied and lowest in the group with clear-cut proteinuria. The proteinuria was not of the classical glomerular or tubular type, but apparently due to the lack of cubilin function needed for tubular reabsorption of some, but not all, proteins of the primary urine.

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Section: Introductionmentioning

confidence: 99%

Proteinuria in cubilin-deficient patients with selective vitamin B12 malabsorption

et al. 2003

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“…The receptor has therefore been called cubam ( cub ilin and am nionless) (31). Decreased urinary excretion of the receptor was found in the Finnish patients, whereas some Arab patients could even excrete increased amounts (36,37). Those patients were probably incorrectly diagnosed and suffered from lack of IF.…”

Section: Discovery and History Of Imerslund-gräsbeck Syndrome (Igs)mentioning

confidence: 93%

“…Those patients were probably incorrectly diagnosed and suffered from lack of IF. The overall conclusion was that the disease had subsets, apparently due to different genetic errors (37). Then it was reported that the kidney receptor was identical with the intestinal one and also bound ligands other than Cbl-IF (38,39).…”

Section: Discovery and History Of Imerslund-gräsbeck Syndrome (Igs)mentioning

confidence: 99%

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Juvenile Selective Vitamin B12 Malabsorption: 50 Years After Its Description—10 Years of Genetic Testing

Gräsbeck

Tanner

2011

Pediatr Res

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Fifty years have passed since the description of juvenile selective malabsorption of cobalamin (Cbl). Quality of life improvements have dramatically reduced the incidence of parasite-induced or nutritional Cbl deficiency. Consequently, inherited defects have become a leading cause of Cbl deficiency in children which is not always expressed as anemia. Unfortunately, the gold-standard for clinical diagnosis, the Schilling test, has increasingly become unavailable and replacement tests are only in their infancy. Genetic testing is complicated by genetic heterogeneity and differential diagnosis. This review documents the history, research, and advances in genetics that have elucidated the causes of juvenile cobalamin malabsorption. Genetic research has unearthed many cases in the past decade, mostly in Europe and North America, often among immigrants from the Middle East or North Africa. Lack of suitable clinical testing potentially leaves many patients inadequately diagnosed. The consequences of suboptimal Cbl levels for neurological development are well-documented. By raising awareness, we wish to push for fast-track development of better clinical tools and suitable genetic testing. Clinical awareness must include attention to ethnicity, a sensitive topic but effective for fast diagnosis. The treatment with monthly parenteral Cbl for life offers a simple and cost-effective solution once proper diagnosis is made.

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“…Mild proteinuria is frequently, but not always present, and its incidence seems to be diminishing. Genealogical studies show consanguinity and clustering of the origins of grandparents [4]. We aimed to present a case thought to be Imerslund-Grasbeck syndrome because of vitamin B12 deficiency, proteinuria and glossitis…”

Section: Introductionmentioning

confidence: 99%

Unusual case of childhood anemia - Imerslund-grasbeck syndrome, a case report

2015

Clin Case Rep Rev

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Urinary Excretion of Intrinsic Factor and the Receptor for Its Cobalamin Complex in Gräsbeck-Imerslund Patients: The Disease May Have Subsets

Cited by 6 publications

References 23 publications

Proteinuria in cubilin-deficient patients with selective vitamin B12 malabsorption

Proteinuria in cubilin-deficient patients with selective vitamin B12 malabsorption

Juvenile Selective Vitamin B12 Malabsorption: 50 Years After Its Description—10 Years of Genetic Testing

Unusual case of childhood anemia - Imerslund-grasbeck syndrome, a case report

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