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Imerslund-Gräsbeck anemia. A long-term follow-up study
Insights
Imerslund-Gräsbeck anemia patients treated with vitamin B12 are hematologically normal. However, persistent proteinuria, predominantly glomerular, is observed, with stable renal lesions in adults.
Area of Science:
- Nephrology
- Hematology
- Genetics
Background:
- Imerslund-Gräsbeck anemia is a rare inherited disorder causing vitamin B12 malabsorption.
- Patients often present with megaloblastic anemia and neurological symptoms.
- Long-term follow-up data on renal involvement is limited.
Purpose of the Study:
- To assess the long-term clinical and renal outcomes in patients with Imerslund-Gräsbeck anemia.
- To characterize the nature and progression of proteinuria in affected individuals.
- To evaluate renal histology in adult patients.
Main Methods:
- Follow-up study of 14 patients with Imerslund-Gräsbeck anemia (aged 6-46 years).
- Clinical and hematological assessments.
- Quantification of 24-hour urinary protein excretion.
- Renal biopsies with light and electron microscopy for two oldest patients.
Main Results:
- All patients achieved normal clinical and hematological status with intramuscular vitamin B12 therapy.
- Persistent proteinuria was present in 14/14 patients, averaging 750 mg/24h (range 13-1460 mg).
- Proteinuria was mainly glomerular, with some tubular component. Renal biopsies showed moderate mesangioproliferative glomerulopathy, not progressing.
Conclusions:
- Imerslund-Gräsbeck anemia patients maintain hematological remission with vitamin B12 therapy.
- Chronic proteinuria is a common long-term manifestation, primarily glomerular.
- Renal lesions appear stable and non-progressive in adulthood.
Abstract:
A follow-up study has been performed on 14 patients, now aged 6-46 years, with Imerslund-Gräsbeck anemia (congenital, hereditary selective malasorption of vitamin B12). On intramuscular vitamin B12 therapy, the patients are clinically and hematologically normal. Those who had constant proteinuria in childhood continue to excrete protein in the urine. Our patients excrete an average of 750 mg of protein per 24 hours (range 13-1460 mg). The proteinuria is predominantly of glomerular origin, but some is also of tubular origin. Renal biopsies of the two oldest patients were normal on light microscopy. Electron microscopy revealed moderate signs of chronic glomerulopathy of mesangioproliferative type in both patients. The renal lesions do not seem to be progressive.