Autosomal dominant polycystic disease (ADPD)
diagnosis: Polycystic liver disease, tuberous sclerosis, autosomal
recessive polycystic disease (ARPD), Von Hippel Lindau disease, and
multiple simple cysts in the liver and kidneys.
A computed tomography (CT) scan of the abdomen was performed after intravenous infusion of contrast.
show an enlarged liver that contains multiple cysts ranging in size
from a few to several centimeters, diffusely spread throughout the
organ. The kidneys also contain several similar yet much smaller cysts
(> 5 total, bilaterally). The cysts on the kidneys are not very
large. The pancreas, at least to the naked eye, is spared. There are no
other obvious abnormalities; the patient has no significant
intra-abdominal injuries from her trauma.
The definitive diagnosis of this case hinges upon the patient’s
family history, genetic evaluation, and, if necessary, tissue
procurement. Based on the radiographic appearance of her liver and
kidneys, however, the 2 prime suspects should be ADPD and polycystic
liver disease. The former is more likely because of commonality and the
absence of hepatic fibrosis.
Hepatic cysts may be congenital or
acquired. The acquired variety is due to trauma, inflammation, parasitic
infection, or tumor. The cysts are usually not as numerous as in this
case. The congenital variants are rare, autosomal dominant, and 50% of
the patients may have polycystic kidney disease.2
sclerosis and von Hippel Lindau (vHL) disease belong to the
phakomatoses, a group of neurocutaneous disorders that may have cysts in
the viscera. The former may show bilateral asymmetric renal polycystic
lesions, but differs from ADPD by the presence of renal angiomyolipomas,
and the involvement of the lungs, skin, and brain; vHL disease on the
other hand comprises cerebellar hemangioblastoma, retinal hemangiomas,
and, occasionally, pheochromocytomas. This patient had none of these.
is uncommon to have this degree of hepatomegaly and bilateral multiple
renal cysts due to the presence of multiple simple cysts in the liver or
The term ‘polycystic kidney disease’ encompasses
both the autosomal dominant (ADPD) and the autosomal recessive (ARPD)
forms of polycystic kidney disease. Although there is considerable
effort to distinguish the 2 forms of the disease, for obvious genetic
reasons, there are cases, in the young, in which the imaging features of
the 2 forms are present in the same child, making it impossible to
allocate confidently the disorder to a particular category. There have
been reports of cases previously ascribed to one form of the disease by
prenatal ultrasound (US) that, over time, evolved to the other variant.
In children then, imaging cannot hope to provide a conclusive
investigative answer, but can complement clinical findings. In adults,
the features of ADPD, a confirmed family history of the disease and its
imaging features make its diagnosis relatively easy.
there is always involvement of the liver by fibrosis with or without
ectasia of the bile ducts similar to that seen in Caroli’s disease.3
The patient, always the index case in a family, typically presents
younger, but may appear in adolescence with hematemesis due to portal
hypertension; the disease, though, is not compatible with longevity and
is not a likely diagnosis in this case.
polycystic kidney disease (adult polycystic kidney disease, Potter type
III disease) is the fourth-most common cause of end-stage renal disease.5
Its inheritance is by autosomal transmission and the disease has 100%
generational penetrance, but a variable expressivity. At least there are
descriptions of 3 genetic variants of the disease;4 85% of
cases (PKD1) are due to an abnormality at chromosome 16q13.3, while 15%
(PKD2) are due to an abnormality at chromosome 4q21-23. The third
genetic locus, yet unmapped, is a rare cause of the disease.
the disease, there is heightened predisposition to the formation of
epithelium-lined cysts in renal tubules and Bowman’s capsules that grow
to variable sizes surrounded by fibrotic tissue and that ultimately
destroy the kidneys.4
There may be cysts in the liver
(25% to 50%), pancreas (9%), kidneys, spleen, thyroid, ovaries, uterus,
testis, seminal vesicles, epididymis, and the urinary bladder. Other
associated abnormalities include saccular (berry) aneurysms of the
circle of Willis (10% to 16% of autopsy cases and as many as 41% of
patients undergoing cerebral angiography), aortic root abnormalities,
mitral valve prolapse, hypertension, azotemia, proteinuria, lumbar and
abdominal pain, and abdominal and inguinal hernias. Renal failure is
usually a late manifestation. (Being hit by a car, as in our case, is
not a reported feature of the disease, yet).
Ultrasound (US) is a
useful screening tool for ADPD in adolescents, and contrast-enhanced
computed tomography or magnetic resonance imaging (MRI) are recommended
when the US results are equivocal, or if there is need to exclude
complications of the disease (eg, renal cell carcinoma) or other
differential diagnosis (eg, Tuberous sclerosis).6,7,8
complications of the disease include hematuria (due to a ruptured
cyst), renal calculi (composed of urate or calcium oxalate), renal cell
carcinoma (difficult to diagnose, but not any more common in the ADPD
population than in the general population), and chronic renal failure
(which develops in 50% of patients).9
The prognosis of the disease depends upon the development of renal
insufficiency. When the serum creatinine level is consistently >
1.5mg/dL, the disease has entered a progressive phase of renal
insufficiency. Risk factors that accelerate the progress of renal
failure include: male gender, multiple pregnancies, the PKD1 genotype,
hematuria, hypertension, and proteinuria.9
is by hemodialysis, peritoneal dialysis, or renal transplantation. ADPD
patients on hemodialysis or peritoneal dialysis fair as well or better
than patients with end-stage renal disease from other renal pathologies.
- Bisceglia M, Galliani CA, Senger C, et al. Renal cystic diseases: A review. Adv Anat Pathol. 2006;13:26-56. Review.
- Zheng D, Wolfe M, Cowley BD Jr, et al. Urinary excretion of monocyte
chemoattractant protein-1 in autosomal dominant polycystic kidney
disease. J Am Soc Nephrol. 2003;14:2588-2595.
- Sgro M, Rossetti S, Barozzino T, et al. Caroli’s disease: prenatal diagnosis, postnatal outcome and genetic analysis. Ultrasound Obstet Gynecol. 2004;23:73-76.
- Grantham JJ. The etiology, pathogenesis, and treatment of autosomal dominant polycystic kidney disease: Recent advances. J Kidney Dis. 1996;28:788-803. Review.
- Fall PJ, Prisant LM. Polycystic kidney disease. J Clin Hypertens (Greenwich). 2005;7:617-619, 625.
- Dimitrakov DY, Dimitrakov JD, Despotov TB. Ten-year clinical and
ultrasonographic follow-up of siblings from families with autosomal
dominant polycystic kidney disease. Folia Med (Plovdiv). 2002;44:10-12.
- Lackner E, Jobges M, Schirmer F, Hummelsheim H. Intracranial aneurysms and autosomal dominant polycystic kidney disease]. Fortschr Neurol Psychiatr. 2002;70:438-442. [in German]
- O’Neill WC, Robbin ML, Bae KT, et al. Sonographic assessment of the
severity and progression of autosomal dominant polycystic kidney
disease: The Consortium of Renal Imaging Studies in Polycystic Kidney
Disease (CRISP). Am J Kidney Dis. 2005;46:1058-1064.
- Grantham JJ. Mechanisms of progression in autosomal dominant polycystic kidney disease. Kidney Int Suppl. 1997;63:S93-7. Review.