Öz
AMAÇ: Karaciğerin fibrokistik hastalıkları (KFKH); intrahepatik ve/veya ekstrahepatik biliyer anormallikler sonucunda safra kanallarında genişleme, hepatik fibrozis ve kistik oluşumlarla karakterize olan kalıtsal geçişli nadir görülen bir hastalık grubudur. Hastalar asemptomatik olabileceği gibi kolanjit, portal hipertansiyon, siroz, ele gelen kitle gibi semptomlarla başvurabilirler. Çalışmamızda; kliniğimizde takipli, KFKH olan hastaları; demografik özellikleri, klinik-laboratuvar bulguları ve son durumları ile değerlendirdik.
GEREÇ VE YÖNTEMLER: Çalışmamıza; Ocak 2008- Aralık 2019 yılları arasında, Çocuk Gastroenteroloji, Hepatoloji ve Beslenme polikliniğinde KFKH nedeniyle takipli olan hastalar; klinik-laboratuvar bulguları, tedavi yaklaşımları ve son durumları ile geriye dönük olarak incelendi.
BULGULAR: Toplam 39 hasta incelendi (%56.4 erkek, ortanca yaş; 5 yıl 3 ay, yaş aralığı: 1 ay-16.8 yıl). Sekiz hastada (%20.5) Caroli hastalığı (CH), 16 hastada konjenital hepatik fibrozis (KHF) (%41), 15 hastada koledok kisti tespit edilmişti. Başvuru şikayeti; en sık sarılık (n=8, %20.5), kronik karın ağrısı (n=6, %15.4) ve splenomegali (n=4, %10.3) idi. Sekiz hasta renal kist tespiti sonrası taramada (%20.5), yedi hasta intrauterin dönemde (%17.9), iki hasta ise insidental olarak tespit edilmişti (%5.1). Otozomal resesif polikistik böbrek hastalığı (ORPBH) olan altı hastada PKHD1 gen mutasyonu saptandı. On sekiz hasta opere edildi (%46.2, karaciğer nakli, sol lol segmental hepatektomi, mezokaval şant, böbrek nakli, kistektomi). 25 hastaya (%64.1) eşlik eden başka hastalıklar mevcuttu; 18’inde (%46.2) ORPBH, ikisinde metal motor retardasyon (%5.1; birinde metokromatik lökodistrofi, diğerinde Arnold Chiari malformasyonu), birer hastada (%2.6) nefrokalsinozis, juvenil nefronofitizis (böbrek nakli), akut pankreatit, pulmoner-metakarpal distal falanks hipoplazisi ve birinde medüler sünger böbrek ve pineal kist mevcuttu. Takip edilen 39 hastanın altısında portal hipertansiyon, beşinde kronik böbrek yetmezliği (%12.8), dördünde kompanse kronik karaciğer hastalığı (%10.3) ve birinde tekrarlayan kolanjit atakları (%2.6) olup CH olan bir hastaya dekompanse siroz nedeniyle karaciğer nakli yapılmıştı.
TARTIŞMA: Karaciğerin fibrokistik hastalıkları; morbiditesi ve ileri dönem komplikasyon riski yüksek olan bir hastalık olması nedeniyle erken tanı konup düzenli takip yapılmalıdır.
Anahtar Kelimeler
Destekleyen Kurum
yok
Kaynakça
- Referans 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.
- Referans 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.
- Referans 3: Drenth JP, Chrispijn M, Bergmann C. Congenital fibrocystic liver diseases. Best Pract Res Clin Gastroenterol. 2010;24(5):573-84.
- Referans 4: Wehrman A, Kriegermeier A, Wen J. Diagnosis and Management of Hepatobiliary Complications in Autosomal Recessive Polycystic Kidney Disease. Front Pediatr. 2017;5:124.
- Referans 5: Carrim ZI, Murchison JT. The prevalence of simple renal and hepatic cysts detected by computed tomography. Clin Radiol 2003; 58: 626–629.
- Referans 6: Rock N, McLin V. Liver involvement in children with ciliopathies. Clin Res Hepatol Gastroenterol 2014;38(4):407-14.
- Referans 7: 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. Referans 8: Ko JS, Yi NJ, Suh KS, Seo JK. Pediatric liver transplantation for fibropolycystic liver disease. Pediatr Transplant. 2012;16(2):195-200.
- Referans 9: 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
- Referans 10: 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.
Öz
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.
Anahtar Kelimeler
Kaynakça
- Referans 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.
- Referans 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.
- Referans 3: Drenth JP, Chrispijn M, Bergmann C. Congenital fibrocystic liver diseases. Best Pract Res Clin Gastroenterol. 2010;24(5):573-84.
- Referans 4: Wehrman A, Kriegermeier A, Wen J. Diagnosis and Management of Hepatobiliary Complications in Autosomal Recessive Polycystic Kidney Disease. Front Pediatr. 2017;5:124.
- Referans 5: Carrim ZI, Murchison JT. The prevalence of simple renal and hepatic cysts detected by computed tomography. Clin Radiol 2003; 58: 626–629.
- Referans 6: Rock N, McLin V. Liver involvement in children with ciliopathies. Clin Res Hepatol Gastroenterol 2014;38(4):407-14.
- Referans 7: 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. Referans 8: Ko JS, Yi NJ, Suh KS, Seo JK. Pediatric liver transplantation for fibropolycystic liver disease. Pediatr Transplant. 2012;16(2):195-200.
- Referans 9: 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
- Referans 10: 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.
Ayrıntılar
| Birincil Dil | Türkçe |
|---|---|
| Konular | İç Hastalıkları |
| Bölüm | ORIGINAL ARTICLES |
| Yazarlar | |
| Yayımlanma Tarihi | 29 Eylül 2020 |
| Gönderilme Tarihi | 21 Aralık 2019 |
| Yayımlandığı Sayı | Yıl 2020 Cilt: 14 Sayı: 5 |