Брой 4/2022, Статии

PNPLA3 I148M и неалкохолна мастна чернодробна болест при деца

Публикувана на от admin

Д. Кофинова1, И. Йорданова4, П. Хаджийски1, Р. Шентова-Енева1 М. Байчева1, А. Тодорова3,4, Д. Авджиева-Тзавелла2

1Клиника по детска гастроентерология, СБАЛДБ ЕАД „Проф. д-р Иван Митев“, Катедра Педиатрия, МУ-София
2Отделение по клинична генетика, СБАЛДБ ЕАД „Проф. д-р Иван Митев“, МУ-София, Катедра Педиатрия, МУ-София
3Катедра по медицинка химия и биохимия, МУ-София
4 Генетична медико-диагностична лаборатория Геника, София

Резюме

Цел: Целта на проучването е да се установи ролята на PNPLA3 I148M в развитието на НАМЧБ при българските деца.

Материал и методи: Проспективно се включват 22 деца с НАМЧБ и 10 здрави контроли на средна възраст 10.53±3.78 години. При 10 от пациентите се извършва чернодробна биопсия. Анализират се антропометрични и биохимични показатели. При всички се извършва абдоминална ехография с 2D Shear-wave еластография. 

Резултати: PNPLA3 I148M се откри при  9 (40.9%) от пациентите и 7 (70.0%) от контролите. Наличието на PNPLA3 I148M не се асоциира с развитието на НАМЧБ (p=0.246). Не се откри връзка между PNPLA3 I148M и стойностите на АСАТ (p=0.713), АЛАТ (p=0.947), триглицериди (p=0.762) и HOMA-IR (p=0.494).

Заключение: PNPLA3 I148M не се асоциира с развитието на НАМЧБ при български педиатрични пациенти.

Ключови думи: PNPLA3 I148M, деца, неалкохолна мастна чернодробна болест

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Библиография

  1. Vos М. et al. NASPGHAN Clinical Practice Guideline for the Diagnosis and Treatment of Nonalcoholic Fatty Liver Disease in Children. J Pediatr Gastroenterol Nutr. 2017 Feb;64(2):319-334.
  2. Георгиева М.,  Колева Кр., Рашева Н. и др. Нeaлкохолна мастна чернодробна болест у деца и юноши. Педиатрия.2017;57 (1):13-17.
  3. Romeo S, Kozlitina J, Xing C et al. Genetic variation in PNPLA3 confers susceptibility to nonalcoholic fatty liver disease. Nat Genet 2008;40:1461–1465
  4.  Sookoian S, Castano GO, Burgueno AL et al. A nonsynonymous gene variant in adiponutrin gene is associated with nonalcoholic fatty liver disease severity. J Lipid Res 2009;50:2111–2116.
  5. Rotman Y, Koh C, Zmuda JM, Kleiner DE, Liang TJ. The association of genetic variability in patatin-like phospholipase domain-containing protein 3 (PNPLA3) with histological severity of nonalcoholic fatty liver disease. Hepatology 2010;52:894–903
  6. Sookoian S, Pirola CJ. PNPLA3, the history of an orphan gene of the potato tuber protein family that found an organ: the liver. Hepatology 2014;59:2068–2071.
  7. Valenti L, Al-Serri A, Daly AK, Galmozzi E, Rametta R, Dongiovanni P, et al. Homozygosity for the patatin-like phospholipase-3/adiponutrin I148M polymorphism influences liver fibrosis in patients with nonalcoholic fatty liver disease. Hepatology 2010;51:1209–1217.
  8. Romeo S, Kozlitina J, Xing C et al. Genetic variation in PNPLA3 confers susceptibility to nonalcoholic fatty liver disease. Nat Genet 2008;40:1461–1465.
  9. Speliotes EK, Butler JL, Palmer CD, Voight BF, Hirschhorn JN. PNPLA3 variants specifically confer increased risk for histologic nonalcoholic fatty liver disease but not metabolic disease. Hepatology 2010;52:904–912.
  10. Palmer CN, Maglio C, Pirazzi C et al. Paradoxical lower serum triglyceride levels and higher type 2 diabetes mellitus susceptibility in obese individuals with the PNPLA3 148M variant. PLoS One 2012;7 e39362
  11. Bailey SS, Youssfi M, Patel M et al.Shear-wave ultrasound elastography of the liver in normal-weight and obese children. Acta Radiol. 2017Dec;58(12):1511-1518
  12. Karamfilova V, Gateva A, Assyov Y et al. PNPLA3 I148M Polymorphism in Patients with Nonalcoholic Fatty Liver Disease, Obesity and Prediabetes. Journal of Gastrointestinal and Liver Diseases 2019;28: 433-438
  13. Lin YC, Chang PF, Hu FC et al. A common variant in the PNPLA3 gene is a risk factor for nonalcoholic fatty liver disease in obese Taiwanese children. J Pediatr 2011; 158: 740-744
  14. Viitasalo A, Pihlajamaki J, Lindi V et al. Associations of I148M variant in PNPLA3 gene with plasma ALT levels during 2-year follow-up in normal weight and overweight children: the PANIC Study. Pediatr Obes 2014
  15. Romeo S, Sentinelli F, Cambuli VM et al. The 148M allele of the PNPLA3 gene is associated with indices of liver damage early in life. J Hepatol 2010; 53: 335-338
  16. Rotman Y, Koh C, Zmuda JM, Kleiner DE, Liang TJ. The association of genetic variability in patatin-like phospholipase domain-containing protein 3 (PNPLA3) with histological severity of nonalcoholic fatty liver disease. Hepatology 2010;52:894–903
  17. Goran MI, Walker R, Le KA et al. Effects of PNPLA3 on liver fat and metabolic profile in Hispanic children and adolescents. Diabetes 2010; 59: 3127-3130
  18. Santoro N, Kursawe R, D’Adamo E et al. A common variant in the patatinlike phospholipase 3 gene (PNPLA3) is associated with fatty liver disease in obese children and adolescents. Hepatology 2010; 52: 1281-1290
  19. Davis JN, Lê KA, Walker RW et al. Increased hepatic fat in overweight Hispanic youth influenced by interaction between genetic variation in PNPLA3 and high dietary carbohydrate and sugar consumption. Am J Clin Nutr 2010; 92: 1522-1527
  20. Valenti L, Alisi A, Galmozzi E et al. I148M patatinlike phospholipase domain-containing 3 gene variant and severity of pediatric nonalcoholic fatty liver disease. Hepatology 2010; 52: 1274-1280
  21. Mantovani A, Taliento A, Zusi C et al. PNPLA3 I148M gene variant and chronic kidney disease in type 2 diabetic patients with NAFLD: Clinical and experimental findings. Liver Int. 2020 Mar 3.
  22. Targher G, Mantovani A, Alisi A et al. Relationship Between PNPLA3 rs738409 Polymorphism and Decreased Kidney Function in Children With NAFLD. Hepatology. 2019 Jul;70(1):142-153
  23. Marzuillo P1, Di Sessa A1, Guarino S et al. Nonalcoholic fatty liver disease and eGFR levels could be linked by the PNPLA3 I148M polymorphism in children with obesity. Pediatr Obes. 2019 Oct;14(10):e12539.

Адрес за кореспонденция:

Клиника по детска гастроентерология, 

СБАЛДБ ЕАД “Проф. д-р Иван Митев”, 

Бул. “Aкад. Иван Гешов”, 15 

1431, София

е-mail: kofinova@abv.bg