Liver disease in autosomal recessive polycystic kidney disease

Case contributed by Dr Jan Frank Gerstenmaier

Presentation

This adult female patient with no known past history presented with urinary incontinence and anaemia. Bilateral septated renal cysts and chronic renal disease were found on ultrasound at another institution.

Patient Data

Age: 25 years
Gender: Female

MRI brain carried out as part of investigation for headaches

Modality: MRI

There is subtle, but definite increased T1 signal in the deep grey nuclei bliaterally. 

Marked mucosal sinus disease in the right maxillary antrum.

No other cause for headached indentified.

CT kidneys for further evaluation of cysts seen on ultrasound performed in St. Elsewhere

Modality: CT
Numerous low density lesions are shown in both kidneys, none of which enhance, and all of which are consistent with cysts. There is no evidence of soft tissue parenchymal abnormality. No fat containing lesions. No urinary obstruction on either side.
The liver is of low volume, and there is caudate hypertrophy.  There are at least two focal liver lesions:  (1) 1.5 cm, segment VII, image 5.82, 25 Hounsfield units. (2) 0.8 cm, segment VI, image 5.1 of for, 40 Hounsfield units.  The portal vein is patent.  There is no CT evidence of intrahepatic duct dilatation.  The common bile duct at the level of the pancreatic head measures 1.1 cm in diameter.  The pancreatic duct is not dilated.
There are extensive upper abdominal and lower oesophageal varices.  There is moderate splenomegaly.  There is intermediate attenuation 1.2 cm rounded splenic lesion, which may represent a cyst.  There is some wedge-shaped high density material within the anterior segment of the spleen.  There is a shallow defect in the splenic surface laterally. No ascites.
Pancreas and adrenal glands appear normal.
Redundant sigmoid colon and large amount of faecal residue throughout the entire colon.  No bowel obstruction.  There is mural thickening of the rectum (up to 1.8 cm), which may represent portal colopathy of the rectum.
The urinary bladder is thin-walled, and has a volume of approximately 850 ml.

There is a 2.8 cm homogeneous fat density lesion anterior to the right quadratus lumborum in keeping with a lipoma.  No evidence of any cuntinuous lesions.  Small enostosis in the left S2, otherwise no focal liver lesion is identified. Somewhat thin cortex in the vertebral bodies raises suspicion of osteopenia.

Case Discussion

The finding of chronic liver disease with portal venous hypertension including marked varices was unexpected in this patient with renal cysts only detected during her 3rd decade.

Apart from cyst, kidneys and kidney function are normal in this patient. As an unusual and extremely late presentation, this case highlights the inverse relationship with the severity of associated congenital hepatic fibrosis. In cases who present early i.e. in the perinatal or neonatal period, renal disease is the hallmark.  In older patients (infants, teenagers) liver disease is the main contributor to the clinical picture.

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Case Information

rID: 24627
Case created: 1st Sep 2013
Last edited: 29th Feb 2016
Inclusion in quiz mode: Included

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