References

vtio

Вестник трансплантологии и искусственных органов

Russian Journal of Transplantology and Artificial Organs

1995-1191

Academician V.I.Shumakov National Medical Research Center of Transplantology and Artificial Organs", Ministry of Health of the Russian Federation

10.15825/1995-1191-2013-1-67-74

vtio-142

Research Article

Клинические наблюдения

Clinical Cases

ТРАНСПЛАНТАЦИЯ ПЕЧЕНИ У ДЕТЕЙ С БОЛЕЗНЯМИ НАКОПЛЕНИЯ ГЛИКОГЕНА: ОЦЕНКА РИСКА И НЕОБХОДИМОСТИ ЕЕ ПРОВЕДЕНИЯ

LIVER TRANSPLANTATION IN CHILDREN WITH GLYCOGEN STORAGE DISEASES: RISK ASSESSMENT AND NECESSITY OF THIS PROCEDURE

Готье

C. В.

Gautier

S. V.

Цирульникова

О. М.

Tsirulnikova

O. M.

Мнацаканян

Д. С.

Mnatsakanyan

D. S.

Ильинский

И. М.

Ilyinsky

I. M.

Можейко

Н. П.

Mozheiko

N. P.

ФГБУ «Федеральный научный центр трансплантологии и искусственных органов им. академика В.И. Шумакова» Минздрава России, г. Москва ГБОУ ВПО «Первый МГМУ имени И.М. Сеченова», кафедра трансплантологии и искусственных органов, г. МоскваAcademician V.I. Shumakov Federal Research Center of Transplantology and Artificial Organs, Moscow I.M. Sechenov First Moscow State Medical University, Department of Transplantology and Artificial Organs, Moscow

ФГБУ «Федеральный научный центр трансплантологии и искусственных органов им. академика В.И. Шумакова» Минздрава России, г. МоскваAcademician V.I. Shumakov Federal Research Center of Transplantology and Artificial Organs, Moscow

2013

27052014

151

ВЕСТНИК ТРАНСПЛАНТОЛОГИИ И ИСКУССТВЕННЫХ ОРГАНОВ том XV No 1–2013

6774

2013

Готье C.В., Цирульникова О.М., Мнацаканян Д.С., Ильинский И.М., Можейко Н.П.

Gautier S.V., Tsirulnikova O.M., Mnatsakanyan D.S., Ilyinsky I.M., Mozheiko N.P.

Данная работа распространяется под лицензией Creative Commons Attribution 4.0.

This work is licensed under a Creative Commons Attribution 4.0 License.

https://journal.transpl.ru/vtio/article/view/142

Болезни накопления гликогена I, III, IV типа являются врожденными заболеваниями, которые обычно ведут к тяжелому поражению печени. Трансплантация печени является терапией выбора при данных патологиях. В то время как пересадка печени нивелирует первичный дефект фермента в печени, внепе- ченочные проявления гликогенозов порой осложняют посттрансплантационный период. В статье опи- саны данные англоязычной литературы, согласно которой 42 детям до 18 лет по поводу осложнений гликогенозов были проведены трансплантации печени (18 пациентам – в связи с гликогенозом Ia типа, шестерым – Ib, одному ребенку – III типа, 17 пациентам – по поводу гликогеноза IV типа). В работе представлено описание трансплантации печени ребенку по поводу гликогеноза Ia типа, проведен анализ посттрансплантационного периода жизни реципиента.

Glycogen storage diseases I, III and IV types are congenital disorders, which are commonly associated with severe liver diseases. Liver transplantation has been proposed as a treatment of choise for these disorders. While liver transplantation corrects the primary hepatic enzyme defect, the extrahepatic manifestations of glycogenoses often complicate the posttransplant management. Upon review of the English-language literature, 42 children under 18 years old were discovered to have undergone liver transplantation for complications associated with glycogenoses (18 patients with Ia type, 6 – with Ib type, one patient – with III type, 17 – with IV type). This artic- le represents the pediatric liver transplantation for complications associated with glycogenosis Ia type, analyzed posttransplant period in this recipient.

гликогенозыдефекты ферментовтрансплантация печени

glycogenosesenzymatic defectsliver transplantation

References1

Adachi M., Shinkai M., Ohhama Y. et al. Improved neu- trophil function in a glycogen storage disease type Ib patient after liver transplantation // Eur. J. Pediatr. 2004. Vol. 5. P. 202–206.

Alshak N.S., Cocjin J., Podesta L. et al. Hepatocellular

adenoma in glycogen storage disease type IV // Arch. Pa-

thol. Lab. Med. 1994. Vol. 118. P. 88–91.

Arikan C., Kilic M., Nart D. et al. Hepatocellular car-

cinoma in children and effect of living-donor liver transplantation on outcome // Pediatr. Transplant. 2006. Vol. 10. P. 42–47.

Belingheri M., Ghio L., Sala A. et al. Combined liver- kidney transplantation in glycogen storage disese Ia: A case beyond the guidelines // Liver Transpl. 2007. Vol. 13. P. 762–764.

Bhattacharaya N., Heaton N., Rela M. et al. The benefits of liver transplantation in glycogenosis type Ib // J. Inhe- rit Metab. Dis. 2004. Vol. 27. P. 539–540.

Bianchi L. Glycogen storage disease I and hepatocellular tumours // Eur. J. Pediatr. 1993. Vol. 152 (1). P. S63–S70.

BrunoC.,VanDiggelenO.P.,CassandriniD.etal.Clini- cal and genetic heterogeneity of brancing enzyme defici- ency (glycogenolis type IV) // Neurology. 2004. Vol. 63.

P. 1053–1058.

Chen Y.-T., Burchell A. Glycogen storage diseases //

Scriver C.R., Beaudet A.L., Sly W.S., Valle D. eds. The Metabolic Basis of Inherited Disease. 8th edition. New York: McGraw-Hill. P. 1521–1551.

Choi B.Y., Nouyen M.H. The diagnosis and management of benign hepatic tumors // J. Clin. Gastroenterol. 2005. Vol. 39. P. 401–412.

Coire C.I., Qizilbash A.H., Castelli M.F. Hepatic adeno- mata in type Ia glycogen storage disease // Arch. Pathol. Lab. Med. 1987. Vol. 111. P. 166–169.

Czauderna P. Adult type vs. Childhood hepatocellular carcinoma – are they the same or different lesions? Di- ology, natural history, prognosis, and treatment // Med. Pediatr. Oncol. 2002. Vol. 39. P. 519–523.

De La Blanchardiere A., Vayssier C., Duboc D. et al. Severe cardiomyopathy revealing amylopectinosis. Two cases in adolescents from the same family // Presse Med. 1994. Vol. 23. P. 1124–1127 [French].

Demo E., Frush D., Gottfried M. et al. Glycogen storage disease type III-hepatocellular carcinoma a long-term complication? // J. Hepatol. 2007. Vol. 46. P. 492–498.

Dhawan A., Tan K.C., Portmann B. et al. Glycogenosis type IV: Liver transplant at 12 years // Arch. Dis. Child. 1994. Vol. 71. P. 450–451.

Ewert R., Gulijew A., Wensel R. et al. Glycogenosis type IV as a seldom cause of a cardiomyopathy – report about a succesful heart transplantation // Z. Kardiol. 1999. Vol. 88. P. 850–856 [German].

Faivre L., Houssin D., Valayer J. et al. Lomg-term out- come of liver transplantation in patients with glycogen storage disease type Ia // J. Inherit. Metab. Dis. 1999. Vol. 22. P. 723–732.

Franco L.M., Krishnamurthy V., Bali D. et al. Hepa- tocellular carcinoma in glycogen storage disease Ia: A case series // J. Inherit. Metab. Dis. 2005. Vol. 28. P. 153–162.

Gitzelmann R., Bosshard N.U. Defective neutrophil and monocyte functions in glycogen storage disease type Ib:

A literature review // Eur. J. Pediatr. 1993. Vol. 152 (1).

P. S33–S38.

Grazioli L., Federle M.P., Brancatelli G. et al. Hepatic

Adenomas: Imaging and pathologic findings // Radiogra-

phics. 2001. Vol. 21. P. 877–892.

Haagsma E.B., Smit G.P., Niezen-Koning K.E. et al. Type

IIIb glycogen storage disease associated with end-srage cirrhosis and hepatocellular carcinoma. The Liver Trans- plant Group // Hepatology. 1997. Vol. 25. P. 537–540.

Koestinger A., Gillet M., Chiolero R. et al. Effect of liver transplantation on hepatic glucose metabolism in a pati- ent with type I glycogen storage disease // Transplantati- on. 2000. Vol. 69. P. 2205–2207.

Kudo M. Hepatocellular adenoma in type IA glycogen storage disease // J. Gastroenterol. 2001. Vol. 36. P. 65–66.

Labrune P. Glycogen storage disease type I: Indications for liver and/or kidney transplantation // Eur. J. Pediatr.

Vol. 161 (1). P. S53–S55.

Labrune P., Trioche P., Duvaltier I. et al. Hepatocel-

lular adenomas in glycogen storage disease type I and III: A series of 43 patients and review of the literature // J. Pediatr. Gastroenterol. Nutr. 1997. Vol. 24. P. 276–279.

Lachaux A., Boillot T., Stamm D. et al. Treatment with lenograstim (glycolysated recombinant human granu- locyte colony-stimulating factor) and orthotopic liver transplantation for glycogen storage disease type Ib // J. Pediatr. 1993. Vol. 123. P. 1005–1008.

Lee P.J. Glycogen storage disease type I: Pathophysiolo- gy of liver adenomas // Eur. J. Pediatr. 2002. Vol. 161 (1). P. S46–S49.

Lee P.J, Muiessan P., Heaton N. Successful pregnancy after combined renal-hepatic transplantation in glycogen storage disease type Ia // J. Inherit. Metab. Dis. 2004. Vol. 27. P. 537–538.

Lerut J.P., Ciccarelli O., Sempoux C. et al. Glycogenosis storage type I diseases and evolutive adenomatosis: An indication for liver transplantation // Transpl. Int. 2003. Vol. 16. P. 879–884 [E-pub August 7, 2003].

Limmer J., Fleig W.E., Leupold D. et al. Hepatocellular carcinoma in type I glycogen storage disease // Hepato- logy. 1988. Vol. 8. P. 531–537.

Liu P.P., De Villa V.H., Chen Y.S. et al. Outcome of living donor transplantation for glycogen storage disease // Transplant. Proc. 2003. Vol. 35. P. 366–368.

Malatack J.J., Finegold D.N., Iwatsuki S. et al. Liver transplantation for type I glycogen storage disease // Lancet. 1983. Vol. 1. P. 1073–1075.

Martin S.R., Atkison P., Anand R. et al. Studies for Pedi- atric Liver Transplantation 2002: Patient and graft sur- vival and rejection in pediatric recipients of a first liver transplant in the United States and Canada // Pediatr. Transplant. 2004. Vol. 8. P. 273–283.

Martin A.P., Bartels M., Schreiber S. et al. Successful staged kidney and liver transplantation for glycogen sto- rage disease type Ib: A case report // Transplant. Proc. 2006. Vol. 38. P. 3615–3619.

Martinez-Ibanez V., Margarit C., Tormo R. et al. Liver transplantation in metabolic diseases. Report of five pe- diatric cases // Transplant. Proc. 1987. Vol. 19. P. 3803– 3804.

Matern D., Starlz T.E., Arnaout W. et al. Liver transplan- tation for glycogen storage diseases types I, III, IV // Eur. J. Pediatr. 1999. 158 (1). P. S43–S48.

Morioka D., Kasahara M., Takada Y. et al. Living do- nor lever transplantation for pediatric patients with in- heritable metabolic disorders // Am. J. Transplant. 2005. Vol. 5. P. 2754–2763.

Moses S.W., Parvari R. The variable presentations of glycogen storage disease type IV: A review of clinical, enzymatic and molecular studies // Curr. Mol. Med. 2002. Vol. 2. P. 177–188.

Muraca M., Burlina A.B. Liver and liver cell transplan- tation for glycogen storage disease type IA // Acta Gast- roenterol. Belg. 2005. Vol. 68. P. 469–472.

Parker P., Burr I., Slonim A. et al. Regression of jepatic adenomas in type Ia glycogen storage disease with dieta- ry therapy // Gastroenterology. 1981. Vol. 81. P. 534–536.

Poe R., Snover D.C. Adenomas in glycogen storage disease type Ia. Two cases with unusual histologic fea- tures // Am. J. Surg. Pathol. 1988. 12. P. 477–483.

Rake J.P., Visser G., Labrune P. et al. Glycogen storage disease type I: Diagnosis, management, clinical course and outcome. Results of the European Study on Glyco- gen Storage Disease Type I (ESGSD I) // Eur. J. Pediatr. 2002. Vol. 161 (1). P. S46–S49.

Rake J.P., Visser G., Labrune P. et al. Guidelines for ma- nagement of glycogen storage disease type I – European Study on Glycogen Storage Disease Type I (ESGSD I) // Eur. J. Pediatr. 2002. Vol. 161 (1). P. S112–S119.

Reid C.J., Hebert D. Acute renal failure complicating liver transplantation in twin sisters with glycogen sto-

rage disease type Ia // Transplant. Proc. 1996. Vol. 28.

P. 3629–3631.

Selby R., Starlz T.E., Yunis E. et al. Liver transplantation

for type I and type IV glycogen storage disease // Eur. J.

Pediatr. 1993. Vol. 152 (1). P. S71–S76.

Shirasawa Y., Nomura T., Yoshida A. et al. Liver trans-

plantation-associated hypercalcemia followed by acute re-

nal dysfunction // Intern. Med. 2004. Vol. 43. P. 802–806.

Starlz T.E., Demetris A.J., Trucco M. et al. Chimerism after liver transplantation for type IV glycogen storage disease and type I Gaucher’s disease // N. Engl. J. Med.

Vol. 328. P. 745–749.

Sokal E.M., Lopez-Silvarrey A., Buts J.P. et al. Orthoto-

pic liver transplantation for type I glycogenosis unres- ponsive for medical therapy // J. Pediatr. Gastroenterol. Nutr. 1993. Vol. 16. P. 465–467.

Sokal E.M., Van Hoof F., Alberti D. et al. Progressive cardiac failure following orthotopic liver transplanta- tion for type IV glycogenosis // Eur. J. Pediatr. 1992. Vol. 151. P. 200–203.

Superina R.A., Pearl R.H., Roberts E.A. et al. Liver transplantation in children. The initial Toronto experi- ence // J. Pediatr. Surg. 1989. Vol. 24. P. 1013–1019.

Weinstein D.A., Roy C.N., Fleming M.D. et al. Inappro- priate expression of hepcidin is associated with iron re- fractory anemia: Inplications for the anemia of chronic disease // Blood. 2002. Vol. 100. P. 3776–3781.

Wolfsdorf J.I., Holm I.A., Weinstein D.A. Glycogen sto- rage diseases. Phenotypic, genetic, and biochemical characteristics, and therapy // Endocrinol. Metab. Clin. North Am. 1999. Vol. 28. P. 801–823.

The authors declare that there are no conflicts of interest present.