Liver disease in autosomal recessive polycystic kidney disease
Presentation
This adult female patient with no known past history presented with urinary incontinence and anemia. Bilateral septated renal cysts and chronic renal disease were found on ultrasound at another institution.
Patient Data
MRI carried out as part of...
MRI carried out as part of investigation for headaches
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...
CT kidneys for further evaluation of cysts seen on US performed in St. Elsewhere 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.
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.