Polycystic liver disease (PLD) is proven to occur either CASE PRESENTATION sporadically or in association with autosomal dominant
A 61-year-old man was admitted to the hospital for treatpolycystic kidney disease (ADPKD), whereas the exisment of a highly symptomatic PLD. The disease had been tence of an isolated (i.e., without any kidney cyst) familial diagnosed at age 50. The patient had complained for years form is disputed. We describe a family with definitely about a sensation of abdominal fullness and pain. At admisisolated PLD transmitted through three generations and sion, contrast-enhanced computed tomography of the abdoexclude the linkage of the disease to the genetic markers men showed a massively enlarged liver containing innumerof PKD1 and PKD2, the two main loci responsible for able cysts varying in diameter from a few to 100 mm, without ADPKD. These findings strongly support the existence of any kidney cysts (Fig. 1). Supine blood pressure was 150/90 PLD as a genetic disease distinct from the known forms mm Hg. Cardiac echography did not disclose valvular abnorof ADPKD. (HEPATOLOGY 1996;23:249-252.) mality. Magnetic resonance angiography did not show intracranial aneurysm. Biological tests revealed an increase in gglutamyl-transferase (266 IU/L; normal range, 5 to 45 IU/L)
Liver cysts are commonly associated to autosomal and alkaline phosphatase levels (156 IU/L; normal range, 10 dominant polycystic kidney disease (ADPKD) whether to 60 IU/L). Serum bilirubin concentration was normal (0.8 or not linked to the polycystic kidney disease 1 (PKD 1 ) mg/dL). Serum creatinine concentration was normal (0.9 mL/ dL), and urinalysis showed normal results. Surgical fenestra-locus on chromosome 16 (the main locus responsible tion of multiple cysts was performed with beneficial effect for for the disease). [1][2] The severity of the polycystic liver the patient.
disease (PLD) may contrast with the mildness of renal
Family history revealed that the patient's mother also had involvement, especially in females. 3 massive PLD without known kidney disease; she died of can-PLD as an isolated disease (i.e., without any kidney cer of unknown origin at age 80. The father was not known cyst) is proven to occur sporadically. 4 The existence of to suffer from liver or kidney disease; he died of a heart attack a familial form of isolated PLD has been suggested by at age 77. A family study was undertaken (Fig. 2). In the Berrebi et al 5 on the basis of two family histories. 5,6 proband's sister (II,3, age 58 years), abdominal computed to-However, in neither family was a mild renal involvemography revealed the presence of extensive PLD (with mild ment formally excluded 7 and no genetic analysis was hepatomegaly) without any kidney cyst. Supine blood pres- sure was 154/90 mm Hg. Cardiac echography and cerebral performed. magnetic resonance angiography were normal. Gamma-glu-We describe a family with definitely isolated PLD tamyl-transferase (92 UI/L) and leucine-amino-peptidase (62; transmitted through three generations, and exclude normal range 18 to 58 UI/L) were slightly increased. Serum the linkage of the disease to the genetic markers of bilirubin was normal (0.7 mg/dL). Serum creatinine was nor-PKD 1 and PKD 2 . These findings strongly support, for mal (1.1 mg/dL) and urinalysis showed normal results. The the first time, the existence of PLD as a genetic disease other relatives at risk agreed to undergo an investigation distinct from ADPKD.
including blood and urine examination and liver-kidney ultrasonography. As shown in the pedigree (Fig. 2), the proband's daughter (III,1, age 36 years) was also found to have a marked PLD (with preserved liver size). She had had two Abbreviations: ADPKD, autosomal dominant polycystic kidney disease; pregnancies and had used contraceptive pills for 13 years.