PROTEINURIA AND B12-DEFICIENCY ANEMIA IN THE STRUCTURE OF IMERSLUND–GRASBECK SYNDROME: CASE REPORT
https://doi.org/10.21508/1027-4065-2017-62-3-79-84
Abstract
The article presents literature data and a clinical case on the rare Imerslund-Grasbeck syndrome. The pathogenetic foundations, the features of the clinical picture, course and treatment of this syndrome in children are discussed. Own clinical observation of the syndrome of Imerslund-Grasbeck in a 8 years girl is presented. We presented a summary table with described in the literature of mutations in different ethnic groups. The authors indicated the need for molecular genetic studies of genes CUBN and AMN in children with the combination of proteinuria and B12-deficiency anemia to diagnose the Imerslund-Grasbeck syndrome. Patients with the Imerslund-Grasbeck syndrome require lifelong replacement therapy with cobalamin, observation by a nephrologist and a hematologist.
About the Authors
E. F. Andreeva
Saint-Petersburg State Pediatric Medical University
Russian Federation
Saint-Petersburg
Russian Federation
Saint-Petersburg
N. D. Savenkova
Saint-Petersburg State Pediatric Medical University
Russian Federation
Saint-Petersburg
Russian Federation
Saint-Petersburg
A. A. Myasnikov
Republic Karelia hospital named after V. A. Baranov
Russian Federation
Petrozavodsk
Russian Federation
Petrozavodsk
E. N. Suspitsyn
Saint-Petersburg State Pediatric Medical University
Russian Federation
Saint-Petersburg
Russian Federation
Saint-Petersburg
E. R. Kharysova
Saint-Petersburg State Pediatric Medical University
Russian Federation
Saint-Petersburg
Russian Federation
Saint-Petersburg
References
1. Imerslund O. Idiopathic chronic megaloblastic anemia in children. Acta Paediat Scand 1960; 1:1–115.
2. Grasbeck R., Gordin R., Kantero I. et al. Selective vitamin B12 malabsorption and proteinuria in young people. Acta Med Scand 1960; 167:289–296.
3. Международная классификация болезней и проблем, связанных со здоровьем, 10-го пересмотра. http://mkb-10.com. [International Classification of Diseases and Related Health Problems. http://mkb-10.com. (in Russ)]
4. OMIM; https://www.ncbi.nlm.nih.gov/omim/?term=261100
5. Grasbeck R. Imerslund-Grasbeck syndrome (selective vitamin B12 malabsorption with proteinuria). Orphanet J Rare Dis 2006; 1: 17. DOI: 10.1186/1750-1172-1-17.
6. Del Baldo G., Marabini C., Albano V. et al. Imerslund–Grasbeck Syndrome (selective B12 malabsorption): Think about it also in Down’s syndrome! Digestive and Liver Disease 2016; 48 (4), 274. DOI: http://dx.DOI.org/10.1016/j.dld.2016.08.088
7. De Filippo G., Rendina D., Rocco V., Esposito T., Gianfrancesco F., Strazzullo P. Imerslund-Grasbeck syndrome in a 25-month-old Italian girl caused by a homozygous mutation in AMN. Ital J Pediatr 2013; 39: 58. DOI: 10.1186/1824-7288-39-58.
8. Storm T., Zeitz C., Cases O., Amsellem S., Verroust P.J., Madsen M. еt al. Detailed investigations of proximal tubular function in Imerslund-Grasbeck syndrome. BMC Med Genet 2013; 14: 111. DOI: 10.1186/1471-2350-14-111.
9. Beech C.M., Liyanarachchi S., Shah N.P., Sturm A.C., Sadiq M.F., de la Chapelle A., Tanner S.M. Ancient founder mutation is responsible for Imerslund-Grasbeck Syndrome among diverse ethnicities. Orphanet J Rare Dis 2011; 6: 74. DOI: 10.1186/1750-1172-6-74.
10. Tanner S.M., Li Z., Bisson R., Acar C., Oner C., Oner R. et al. Genetically heterogeneous selective intestinal malabsorption of vitamin B12: founder effects, consanguinity, and high clinical awareness explain aggregations in Scandinavia and the Middle East. Hum Mutat 2004; 23(4): 327–333. DOI: 10.1002/humu.20014.
11. Aminoff M., Carter J.E., Chadwick R.B., Johnson C., Grasbeck R., Abdelaal M.A. et al. Mutations in CUBN, encoding the intrinsic factor-vitamin B12 receptor, cubilin, cause hereditary megaloblastic anaemia1. Nat Genet 1999; 21(3): 309–313. DOI: 10.1038/6831.
12. Tanner S.M., Sturm A.C., Baack E.C., Liyanarachchi S., de la Chapelle A. Inherited cobalamin malabsorption. Mutations in three genes reveal functional and ethnic patterns. Orphanet J Rare Dis 2012; 7: 56. DOI: 10.1186/1750-1172-7-56.
13. Luder A.S., Tanner S.M., de la Chapelle A., Walter J.H. Amnionless (AMN) mutations in Imerslund–Grasbeck syndrome may be associated with disturbed vitamin B(12) transport into the CNS. J Inherit Metab Dis 2008; 31(3): 493–496. DOI: 10.1007/s10545-007-0760-2.
14. Montgomery E., Sayer J.A., Baines L.A., Hynes A.M., Vega-Warner V., Johnson S., Goodship J.A., Otto E.A. Novel compound heterozygous mutations in AMN cause Imerslund-Grasbeck syndrome in two half-sisters: a case report. BMC Med Genet 2015; 16: 35. DOI:10.1186/s12881-015-0181-2.
15. Broch H., Imerslund O., Monn E., Hovig T., Seip M. Imerslund-Grasbeck anemia. A long-term follow-up study. Acta Paediatr Scand 1984; 73(2): 248–253.
16. Goudarzipour K., Zavvar N., Behnam B., Ahmadi M.A. Imerslund-Grasbeck syndrome in a 5-year-old Iranian boy.Indian J Nephrol 2016; 26(6): 455-457. DOI: 10.4103/0971-4065.175984.
17. Laxminarayana K.P.H., Yeshvanth S.K., Shetty J.K., Permi H.S., Rao C. Unusual Cause of Childhood Anemia: Imerslund Grasbeck Syndrome. J Lab Physicians 2011; 3(2): 113–115. DOI: 10.4103/0974-2727.86845.
18. Krzemień G., Turczyn A., Szmigielska A., Roszkowska-Blaim M. Vit. B12 deficiency in children (Imerslund-Grasbeck syndrome in two pairs of siblings). Dev Period Med 2015; 19(3 pt 2): 351–355.
19. Grasbeck R., Tanner S.M. Juvenile selective vitamin B12 malabsorption: 50 years after its description–10 years of genetic testing. Pediatr Res 2011; 70: 222–228. DOI: 10.1203/PDR.0b013e3182242124.
20. Lin S.H., Sourial N.A., Lu K.C., Hsueh E.J. Imerslund-Grasbeck syndrome in a Chinese family with distinct skin lesions refractory to vitamin B12. J Clin Pathol 1994; 47(10): 956–958.
21. Madhavan S., Vijayakumar M., Rajajee S., Nammalwar B.R. Imerslund-Grasbeck Syndrome: Association With Diabetes Mellitus. Indian Pediatrics 2009; 46: 251–253.
22. Grasbeck R. Megaloblastic anaemia. Hematology 2005; 10: 227–228. DOI: 10.1080/10245330512331390384.
23. Сатаева М.С., Астапкевич Л.А., Рахимбекова Г.А., Ахматуллина С.К., Клодзинский А.А., Нефедова Е.Д., Маслова Н.В. Синдром Имерслунд–Гресбека – второе из древнейших аутосомно-рецессивных заболеваний человека. Клиническая медицина Казахстана 2013; 27(1): 79–81 [Sataeva M.S., Аstapkevich L.А., Rakhimbekova G.А., Аkhmatullina S.K., Klodzinskij А.А., Nefedova E.D., Maslova N.V. Syndrome Imerslund–Gresbek – is the second of the oldest autosomal recessive diseases. Klinicheskaya meditsina Kazahstana 2013; 27(1): 79–81. (in Russ)]
24. Nielsen R., Christensen E.I. Proteinuria and events beyond the slit. Pediatr Nephrol 2010; 25(5): 813–822. DOI: 10.1007/ s00467-009-1381-9.
25. Настаушева Т.Л., Ситникова В.П., Швырев А.П. Стахурлова Л.И., Стеньшинская Е.В., Звягина Т.Г. и др. Протеинурия у детей и подростков: генез, диагностический алгоритм, принципы терапии. Нефрология 2011; 2: 70–76. [Nastausheva T. L., Sitnikova V.P., Shvyrev A.P., Stakhurlova L.I., Sten’shinskaya E.V., Zvyagina T.G. et al. Proteinuria in children and adolescents: aetiology, diagnostic algorithms, treatment principles. Nefrologiya 2011; 2: 70–76. (in Russ)]
26. Папаян А.В., Жукова Л.Ю. Анемии у детей. Руководство для врачей. Cпб: Питер, 2001; 384. (Papayan А.V., Zhukova L.Yu. Anemia in children. А guide for physicians. Spb: Piter, 2001; 384. (in Russ)]
Review
For citations:
Andreeva E.F., Savenkova N.D., Myasnikov A.A., Suspitsyn E.N., Kharysova E.R. PROTEINURIA AND B12-DEFICIENCY ANEMIA IN THE STRUCTURE OF IMERSLUND–GRASBECK SYNDROME: CASE REPORT. Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics). 2017;62(3):79-84. (In Russ.) https://doi.org/10.21508/1027-4065-2017-62-3-79-84
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