Hepatic,pancreatic and renal manifestations of a ciliopathy

Sreelakshmi Kotha ,Philip Berry

Department of Gastroenterology, Guy’s and St Thomas’ Foundation Trust, London, UK

Hepatorenal fibrocystic diseases are inherited disorders,characterized by developmental abnormalities and fibrocystic degeneration of the portobiliary system and kidneys [1] .They are part of a larger group of disorders referred to as“ciliopathies”which affect 1 in 1000 people.Polycystic kidney disease is the most common kidney manifestation,while others include nephronophthisis,glomerulocystic disease and cystic dysplasia.Hepatic manifestations include Caroli’s disease,congenital hepatic fibrosis and polycystic liver disease.

Hepatic manifestations are due to ductal plate malformation of the portobiliary system [2] .The combination of Caroli’s disease,which is ductal plate malformation of central biliary tree and congenital hepatic fibrosis,which is ductal plate malformation of the peripheral biliary system,leads to Caroli’s syndrome.Caroli’s syndrome is associated with cholangitis and increased risk of cholangiocarcinoma [3] .Congenital hepatic fibrosis can lead to clinically important portal hypertension.

A 23-year-old female patient presented with recurrent abdominal pain and sepsis related to a grossly dilated pancreatic duct with calculi (Fig.1 A).Imaging also revealed cystic dilation of the biliary tree and features of portal hypertension (Fig.1 B).Five years previously she underwent endoscopic cystgastrostomy for a presumed pancreatic cyst.Peritonitis ensued,with emergent pancreaticojejunostomy.A childhood diagnosis of Senior-Loken syndrome was made based on nephronophthisis and Leber’s congenital amaurosis,leading to end-stage renal disease and cadaveric renal transplantation at age 10.

After several episodes of sepsis attributed to the inadequate decompression of the dilated pancreatic duct,an attempt at endoscopic retrograde pancreatography and trans-papillary pancreatic duct drainage was undertaken,but this was unsuccessful.Surgical revision of the pancreaticojejunostomy was felt to be high-risk due to portal hypertension.The patient has remained well with periodic antibiotic courses.

Fig.1.A:Grossly dilated pancreatic duct with calculi (arrow);B:cystic dilation of the biliary tree (arrows).

Acknowledgments

None.

CRediTauthorshipcontributionstatement

SreelakshmiKotha:Conceptualization,Investigation,Writing -original draft.PhilipBerry:Investigation,Supervision,Writing -original draft,Writing -review &editing.

Funding

None.

Ethicalapproval

Informed consent for publication was obtained from the patient.

Competinginterest

No benefits in any form have been received or will be received from a commercial party related directly or indirectly to the subject of this article.