Congenital hepatic fibrosis with polycystic kidney disease: An unusual cause of neonatal cholestasis

Bharani, Vani; Venkatesh, Vybhav; Saikia, Uma Nahar; Thapa, Babu Ram

doi:10.1007/s13312-017-1074-6

Cited by 4 publications

(2 citation statements)

References 10 publications

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“…Typical presentation of CHF is in the form of portal hypertension in adolescents and young adults. [8] Four clinical forms have been defined [9] :…”

Section: Discussionmentioning

confidence: 99%

Congenital hepatic fibrosis with polycystic kidney disease

Jiang¹,

Zhou²,

Jin

et al. 2019

Medicine

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Introduction: Congenital hepatic fibrosis (CHF) is a rare autosomal recessive disease derived from biliary dysgenesis secondary to ductal plate malformation and is often accompanied by renal cysts or increased renal echogenicity. Patient concerns: A 25-year-old woman was admitted to our hospital with splenomegaly and hepatic cirrhosis of a 3-month duration and fever accompanied by abdominal pain for 3 days. The second patient was a 25-year-old male referred to our hospital with hepatomegaly and splenomegaly of 6-year duration who had experienced fever for 3 months and abdominal distension for 1 week. Both 25-year-old patients were found to have CHF with polycystic kidney disease. Diagnosis: Radiological imaging, including computed tomography (CT), magnetic resonance imaging (MRI), and sonography, revealed hepatic fibrosis, portal hypertension, splenomegaly, ascites, bile duct malformation, polycystic kidneys, and CHF. For the first patient, a liver biopsy confirmed the pathological features of CHF, and genetic testing revealed three heterozygous missense mutations, which were classified as “undetermined” in the public Wilson's disease/ATP7B and ADPKD/PKD1 databases. Interventions: The first patient had undergone a splenectomy for anemia 2 months previously. Because there is no radical cure for CHF, and due to economic reasons, neither patient received liver transplantation. Therefore, we administered only anti-fibrotic supportive treatment for symptoms. Outcomes: Both patients were discharged after their symptoms improved, and both survived for 2 years of follow-up. Conclusion: These cases highlight the value of radiological imaging, pathological examination, and genetic evaluation for the diagnosis of CHF. When an individual with unexplained cirrhosis presents with bile duct dilation and malformation as well as polycystic kidneys, the possibility of CHF should be considered. For individuals found to have polycystic kidneys at a young age, the results of liver function tests and imaging examinations including Fibroscan imaging should be continuously and dynamically monitored to enable early diagnosis of CHF.

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“…Typical presentation of CHF is in the form of portal hypertension in adolescents and young adults. [8] Four clinical forms have been defined [9] :…”

Section: Discussionmentioning

confidence: 99%

Congenital hepatic fibrosis with polycystic kidney disease

Jiang¹,

Zhou²,

Jin

et al. 2019

Medicine

View full text Add to dashboard Cite

show abstract

“…Another study involving 25 patients with CHF (mean age 8.5yr) reported hematemesis (60%) and abdominal distension (48%) as common symptoms with 5 (20%) of cases each detected incidentally and on sibling screening (18). Presentation of CHF as neonatal cholestasis is rare (19). The index case presented during neonatal period with features of cholangitis and improved with supportive management.…”

Section: Case Reportmentioning

confidence: 99%