Abstract

Objective: Fibrocystic liver disease (FLD) is a multisystemic disease that can be seen in a wide age range from intrauterine period to adolescent age. The aim of study is to evaluate the presenting symptoms, clinical-laboratory findings, treatment modality and results of the patients with FLD .

Material and Methods: The demographic features, clinical-laboratory findings, treatment modality and results of patients with FLD followed up in our clinic between January 2008 and December 2019 were recorded retrospectively.

Results: A total of 39 patients (56.4% male, median age; 53m years, age range: 10 days-16.8 years) were evaluated. Eight patients (20.5%) had Caroli’s disease (CD), 16 patients had congenital hepatic fibrosis (CHF) (41%), and 15 had choledochal cysts. The most common presenting symptoms were jaundice (n=8, 20.5%), chronic abdominal pain (n=6, 15.4%) and splenomegaly (n=4, 10.3%). Eight patients were detected after renal cyst detection and screening programme (20.5%), seven patients during intrauterine period (17.9%), and two patients incidentally (5.1%). PKHD1 gene mutation was deteceted in six patients with autosomal recessive polycystic kidney disease (ARPKD). Eighteen patients underwent surgical operation (46.2%, liver transplantation, left lobe segmental hepatectomy, mesocaval shunt, kidney transplantation, cystectomy). 25 patients (64.1%) had extrahepatic involvement [ ARPKD (n=18), mental motor retardation (n=2, methochromatic leukodystrophy, Arnold Chiari malformation in each one), nephrocalcinosis (n=1), juvenile nephronophytosis (n=1) acute pancreatitis (n=1), pulmonary hypoplasia + metacarpal distal phalanx hypoplasia (n=1) and medullary sponge kidney+pineal cyst (n=1)]. During the follow up of 39 patients; six patients had portal hypertension, five had chronic renal failure (12.8%), four had compensated chronic liver disease (10.3%) and one had recurrent cholangitis attacks (2.6%). Two patients underwent liver transplantation due to decompensated cirrhosis, and one patient underwent kidney transplantation due to end-stage renal failure.

Conclusion: Early diagnosis, regular follow-up and treatment are important in patients with FLD because of the high risk of morbidity and complications.

Keywords: Child, Fibrocytis, Liver

References

  1. Veigel MC, Prescott-Focht J, Rodriguez MG, Zinati R, Shao L, Moore CAW, Lowe LH. Fibropolycystic liver disease in children. Pediatr Radiol (2009) 39:317–327.
  2. Bayraktar Y. Experience of a single center with congenital hepatic fibrosis: A review of the literature. World J Gastroenterol 2010;16(6): 683-690.
  3. Drenth JP, Chrispijn M, Bergmann C. Congenital fibrocystic liver diseases. Best Pract Res Clin Gastroenterol. 2010;24(5):573-84.
  4. Terada T, Nakanuma Y. Detection of apoptosis and expression of apoptosis-related proteins during human intrahepatic bile duct development. Am J Pathol 1995;146:67-74
  5. Wehrman A, Kriegermeier A, Wen J. Diagnosis and Management of Hepatobiliary Complications in Autosomal Recessive Polycystic Kidney Disease. Front Pediatr. 2017;5:124.
  6. Gunay-Aygun M, Avner ED, Bacallao RL, Choyke PL, Flynn JT, Germino GG, et al. Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis: summary statement of a first National Institutes of Health/Office of Rare Diseases conference. J Pediatr 2006;149:159-64.
  7. Carrim ZI, Murchison JT. The prevalence of simple renal and hepatic cysts detected by computed tomography. Clin Radiol 2003; 58: 626–629.
  8. Rock N, McLin V. Liver involvement in children with ciliopathies. Clin Res Hepatol Gastroenterol 2014;38(4):407-14.
  9. Park E, Lee JM, Ahn YH, Kang HG, Ha II, Lee JH, Park YS, Kim NK, Park WY,Cheong HI. Hepatorenal fibrocystic diseases in children. Pediatr Nephrol. 2016;31(1):113-9.
  10. De Kerckhove L, De Meyer M, Verbaandert C, Mourad M, Sokal E, Goffette P, et al. The place of liver transplantation in Caroli’s disease and syndrome. Transpl Int 2006;19:381-8.
  11. Ko JS, Yi NJ, Suh KS, Seo JK. Pediatric liver transplantation for fibropolycystic liver disease. Pediatr Transplant. 2012;16(2):195-200.
  12. Gunay‐Aygun M, Font‐Montgomery A, Lukose Let al. Characteristics of congenital hepatic fibrosis in a large cohort of patients with autosomal recessive polycystic kidney disese. Gastroenterology 2013; 144:112–121
  13. Tyler KL, Sokol RJ, Oberhaus SM, Le M, Karrer FM, Narkewicz MR, et al. Detection of reovirus RNA in hepatobiliary tissues from patients with extrahepatic biliary atresia and choledochal cysts. Hepatology 1998;27:1475-82.
  14. Zhan JH, Hu XL, Dai CJ et al. Expressions of p53 and inducible nitric oxide synthase in congenital choledochal cysts. Hepatobiliary Pancreat Dis Int 2004;3: 120–123.

Copyright and license

Copyright © 2020 The Author(s). This is an open access article distributed under the Creative Commons Attribution License (CC BY), which permits unrestricted use, distribution, and reproduction in any medium or format, provided the original work is properly cited.

How to cite

1.
Sağ E, Güven B, Sağ E, Yalçın HS, Sağ E, Eyüpoğlu İ, et al. Evaluation of Fibrocystic Diseases of Liver; Single Center Experience. Turk J Pediatr Dis [Internet]. 2020 Sep. 29 [cited 2025 Aug. 23];14(5):391-5. Available from: https://turkjpediatrdis.org/article/view/658