Sonographic pattern of recessive polycystic kidney disease in young adults. Differences from the dominant form.
BACKGROUND
To study the sonographic pattern of autosomal recessive polycystic kidney disease (ARPKD) in early adulthood in order to identify imaging criteria to diagnose this disease and to distinguish between recessive and autosomal dominant polycystic kidney disease (ADPKD) in that age group.


METHODS
An abdominal ultrasound was performed on four ARPKD subjects (with a mean age of 20.2) and on 33 ADPKD subjects in early adulthood (29 without renal failure with a mean age of 20.5, and four with renal failure with a mean age of 26.5). Linkage studies with ADPKD and ARPKD markers were compatible with the clinical diagnosis in all cases.


RESULTS
The renal sonographic features in ARPKD subjects included multiple small cysts in a normal-sized kidney, increased cortical echogenicity and loss of corticomedullary differentiation. In ADPKD subjects without renal failure, sonographic features included few or multiple cysts of different sizes, in normal-sized kidneys in 22 out of 29 patients (75.8%), normal cortical echogenicity and conserved corticomedullary differentiation, except in patients with nephromegaly. All ADPKD subjects with renal failure had nephromegaly and loss of corticomedullary differentiation. The hepatic sonographic features in ARPKD patients included portal fibrosis and in some cases Caroli's disease, while in ADPKD patients a normal hepatic echostructure was detected in all but one case, in addition to simple hepatic cysts in a few cases.


CONCLUSIONS
The evaluation of the sonographic features of the kidneys and those of the liver may help in the differential diagnosis between ARPKD and ADPKD in early adulthood.
Nicolau
C
C
Imaging Diagnosis Center (Ultrasound Unit), Hospital Clínic, IDIBAPS (Institut d'Investigacions Biomèdiques August Pi i Sunyer), University of Barcelona, Spain. cnicolau@clinic.ub.es
Torra
R
R
Badenas
C
C
Pérez
L
L
Oliver
J A
JA
Darnell
A
A
Brú
C
C
D000328:Adult; D003560:Cysts / Q000000981:diagnostic imaging; D005260:Female; D006801:Humans; D007668:Kidney / Q000000981:diagnostic imaging; D008099:Liver / Q000000981:diagnostic imaging; D008107:Liver Diseases / Q000000981:diagnostic imaging; D008297:Male; D016891:Polycystic Kidney, Autosomal Dominant / Q000150:complications / Q000000981:diagnostic imaging*; D017044:Polycystic Kidney, Autosomal Recessive / Q000000981:diagnostic imaging*; D051437:Renal Insufficiency / Q000000981:diagnostic imaging / Q000209:etiology; D014463:Ultrasonography