scholarly journals A family of congenital hepatic fibrosis and atypical retinitis pigmentosa

2015 ◽  
Vol 5 (4) ◽  
Author(s):  
Sunil Pawar ◽  
Vinay Zanwar ◽  
Ashok Mohite ◽  
Ravindra Surude ◽  
Pravin Rathi ◽  
...  
Keyword(s):  
Portal Hypertension ◽  
Retinitis Pigmentosa ◽  
Hepatic Fibrosis ◽  
Esophageal Varices ◽  
Congenital Hepatic Fibrosis ◽  
Progressive Decrease ◽  
Right Lobe ◽  
Regenerating Nodule

Congenital hepatic fibrosis is a rare cause of portal hypertension and esophageal varices in children. We report cases of siblings with biopsy proven congenital hepatic fibrosis and with atypical retinitis pigmentosa. They presented with repeated episodes of jaundice along with progressive decrease of vision in night. They had hepatosplenomegaly and portal hypertension with esophageal varices. One of the siblings had a large regenerating nodule replacing the entire right lobe of the liver and other one developed repeated hematemesis. This constellation of diagnosis belongs to the ciliopathy group of disorders. The spectrum of ciliopathy disorders has been evolving, and it varies from mild to severe manifestations.

scholarly journals Its Congenital Hepatic Fibrosis; Not Cirrhosis At All

2018 ◽  
Vol 1 (2) ◽  
pp. 124-126
Author(s):  
Ananta Shrestha ◽  
Mamun Al-Mahtab ◽  
Salimur Rahman ◽  
Jahangir Sarkar ◽  
Thupten K Lama
Keyword(s):  
Portal Hypertension ◽  
Hepatic Fibrosis ◽  
Autosomal Recessive ◽  
Rare Condition ◽  
Recessive Trait ◽  
Congenital Hepatic Fibrosis ◽  
Life Threatening ◽  
Hepatic Histology ◽  
Upper Abdomen ◽  
Medical University

Congenital hepatic fibrosis is a rare condition characterized by extensive fibrosis of liver but with preserved normal lobular architecture inherited as autosomal recessive trait. We report a 19 year-old-female admitted to Bangabandhu Sheikh Mujib Medical University with the complaints of lump in upper abdomen since last 13 years and episodes of fever and abdominal pain for same duration. She was diagnosed with hepatic TB on hepatic histology. Congenital hepatic fibrosis is a rare cause of portal hypertension that presents during childhood. Prognosis of congenital hepatic fibrosis is good. Life threatening events in these patients are related with variceal bleeding and episodes of cholangitis. Owing to relatively good liver function these patients tolerate portosystemic shunt surgeries quite well.Though rare, congenital hepatic fibrosis should be included in the differential diagnosis of portal hypertension in early life.

scholarly journals Congenital Hepatic Fibrosis in Children and Adults: Clinical Manifestations, Management, and Outcome—Case Series and Literature Review

2020 ◽  
Vol 2020 ◽  
pp. 1-9
Author(s):  
Beidi Zhu ◽  
Zunguo Du ◽  
Zhengxin Wang ◽  
Yang Li ◽  
Jiming Zhang ◽  
...  
Keyword(s):  
Liver Transplantation ◽  
Portal Hypertension ◽  
Literature Review ◽  
Hepatic Fibrosis ◽  
Clinical Laboratory ◽  
Clinical Manifestations ◽  
Case Series ◽  
Congenital Hepatic Fibrosis ◽  
Multidisciplinary Cooperation ◽  
Central Nervous Systems

Background. Congenital hepatic fibrosis is a hereditary fibropolycystic disease caused by ductal plate malformation. It is characterized by portal hypertension, but the manifestations, management, and outcome vary in children and adults. To raise awareness of medical staff, we have comprehensively compared the clinical features of congenital hepatic fibrosis between children and adults. Methods. We retrospectively enrolled all patients diagnosed with congenital hepatic fibrosis at the Huashan Hospital from August 2015 to August 2017 and analyzed their familial, clinical, laboratory, imaging, treatment, and follow-up data in detail. In addition, we reviewed cases with congenital hepatic fibrosis reported in the past 20 years in China and analyzed them according to the patients’ age. Results. A total of eight patients were diagnosed with congenital hepatic fibrosis in the study, including four children and four adults. The onset age of the children, who suffered from severe complications of portal hypertension and needed liver transplantation, ranged from 1 to 15 years old. The disorder developed in adults aged 26 to 60 years old. Three adults complained of recurrent abnormal liver function at the onset of illness, and they mainly received conservative treatments. The literature review included 30 children and 33 adults. In comparison, hepatomegaly was more common in children than in adults (57% vs. 21%, p=0.004). Malformation of kidneys and bile duct abnormalities were common, and multisystem involvement included eyes, other digestive organs, and genital and central nervous systems. Conclusions. Serious complications of portal hypertension developed in children requiring liver transplantation, while adults often had mild-to-moderate liver injuries upon onset. Adults with CHF varied a lot in clinical manifestations. Multiorgan involvement and unusual course are helpful to make a diagnosis. Timely histological assessment by liver biopsy and multidisciplinary cooperation are crucial for definitive diagnosis and early intervention.

scholarly journals Clinical and Paraclinical Findings in Children With Congenital Hepatic Fibrosis: A Single Center 10-Year Study

2020 ◽  
Vol 5 (2) ◽  
pp. 42-46
Author(s):  
Seyed Mohsen Dehghani ◽  
Amir Saeidi ◽  
Farzaneh Nejati ◽  
Iraj Shahramian ◽  
Ali Bazi ◽  
...  
Keyword(s):  
Gastrointestinal Bleeding ◽  
Hepatic Fibrosis ◽  
Esophageal Varices ◽  
Laboratory Data ◽  
Cross Sectional Study ◽  
Clinical Findings ◽  
Decompensated Cirrhosis ◽  
Congenital Hepatic Fibrosis ◽  
Cross Sectional ◽  
Period 2

Background: Congenital hepatic fibrosis (CHF) is an autosomal hereditary disorder affecting the porto-biliary system. It is a rare hereditary disorder often presenting in childhood or adolescence with hepatomegaly, splenomegaly, and gastrointestinal bleeding. A timely diagnosis of organomegalies by sonography can prevent esophageal varices. Liver transplantation is now the only cure for CHF. Objectives: The current study aimed to determine clinical and paraclinical findings in patients diagnosed with CHF from 2008 to 2017. Methods: This was a descriptive cross-sectional study of all children <18 years of age who were diagnosed with CHF from 2008 until 2017 in the pediatric hepatology ward at Nemazee hospital, Shiraz, Iran. Results: Overall, 32 CHF patients were included during the study period. Of these, 12 (37.5%) and 20 (62.5%) were female and male, respectively. The most frequent clinical presentations at diagnosis were hepatomegaly (81%), splenomegaly (68%), gastrointestinal bleeding (43%), abdominal protrusion (40%), ascites (21%), and epistaxis (6%). Severely enlarged livers were observed in 2 patients. Only 5 patients showed a normal-sized spleen, and kidney sonographic findings were normal in 30 patients. Liver enzymes were not severely deviated from the normal range. There was a significant association between spleen size and esophageal varices (P=0.01). Overall, 8 patients were liver transplanted due to decompensated cirrhosis. One patient developed bone marrow suppression secondary to the Epstein bar virus and ultimately succumbed to post-transplant lymphoproliferative disorder. In the study period, 2 girls and 2 boys died of disease complications. Conclusion: The results of the present study indicated that the most common clinical findings of CHF in pediatric patients are splenomegaly and hepatomegaly presenting as abdominal distention and gastrointestinal bleeding. Laboratory data can be normal in most cases, but ultrasonographic findings (in liver, spleen, and even kidneys) can be helpful. The present study also showed that patients with splenomegaly are at higher risk of esophageal varices.

Portal Hypertension in a Neonate With Congenital Hepatic Fibrosis

1981 ◽  
Vol 74 (2) ◽  
pp. 243-244 ◽  
Author(s):  
FAYEZ K. GHISHAN ◽  
SCOTT NAU ◽  
M. KABIR YOUNOSZAI
Keyword(s):  
Portal Hypertension ◽  
Hepatic Fibrosis ◽  
Congenital Hepatic Fibrosis

scholarly journals CONGENITAL HEPATIC FIBROSIS AND OBLITERATIVE PORTAL VENOPATHY WITHOUT PORTAL HYPERTENSION - A REVIEW OF LITERATURE BASED ON AN ASYMPTOMATIC CASE

2018 ◽  
Vol 55 (4) ◽  
pp. 324-328
Author(s):  
Juliana Arrais GUERRA ◽  
Kátia Cristina KAMPA ◽  
Maurício ZAPPAROLI ◽  
Venâncio AF ALVES ◽  
Cláudia Alexandra Pontes IVANTES
Keyword(s):  
Portal Hypertension ◽  
Hepatic Fibrosis ◽  
Therapeutic Strategy ◽  
Clinical Presentation ◽  
Pathological Process ◽  
Congenital Hepatic Fibrosis ◽  
Initial Symptoms ◽  
Hereditary Disorders ◽  
Asymptomatic Case ◽  
Obliterative Portal Venopathy

ABSTRACT The disease and the case reported here are relevant especially because of their varied clinical presentation, possibility of being associated with other disorders affecting several organs and possible differential diagnoses. Congenital Hepatic Fibrosis is an autosomal recessive disease due to mutation in the PKHD1 gene, which encodes the fibrocystin/polyductine protein. It is a cholangiopathy, characterized by varying degrees of periportal fibrosis and irregular proliferation of bile ducts. Affected patients are typically diagnosed in childhood, but in some cases the disease may remain asymptomatic for many years. The exact prevalence and incidence of the disease are not known, but it is consider a rare disease, with a few hundred cases described worldwide. It can affect all ethnic groups and occur associated with various hereditary and non-hereditary disorders. The clinical presentation is quite variable, with melena and hematemesis being initial symptoms in 30%-70% of the cases. More rarely, they may present episodes of cholangitis. The disease has been classified into four types: portal hypertension, cholestasis / cholangitis, mixed and latent. Diagnosis begins with imaging tests, but the definition is made by the histopathological sample. So far, there is no specific therapy that can stop or reverse the pathological process. Currently, the therapeutic strategy is to treat the complications of the disease.

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