Autosomal recessive polycystic kidney disease (ARPKD): Single gene ciliopathy characterized by dilated, distal, convoluted tubules & collecting ducts
IMAGING
General Features
Radiographic Findings
Ultrasonographic Findings
MR Findings
CT Findings
Nuclear Medicine Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
Gross Pathologic & Surgical Features
Microscopic Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
Selected References
Benz EG et al: Predictors of progression in autosomal dominant and autosomal recessive polycystic kidney disease. Pediatr Nephrol. 36(9):2639-58, 2021
Akarkach A et al: Maintenance peritoneal dialysis in children with autosomal recessive polycystic kidney disease: a comparative cohort study of the International Pediatric Peritoneal Dialysis Network Registry. Am J Kidney Dis. 75(3):460-4, 2020
Dorval G et al: Long-term kidney and liver outcome in 50 children with autosomal recessive polycystic kidney disease. Pediatr Nephrol. 36(5):1165-73, 2020
Hartung EA et al: Magnetic resonance elastography to quantify liver disease severity in autosomal recessive polycystic kidney disease. Abdom Radiol (NY). 46(2):570-80, 2020
Meyers ML et al: Imaging of fetal cystic kidney disease: multicystic dysplastic kidney versus renal cystic dysplasia. Pediatr Radiol. 50(13):1921-33, 2020
Overman RE et al: Early nephrectomy in neonates with symptomatic autosomal recessive polycystic kidney disease. J Pediatr Surg. 56(2):328-31, 2020
Thomas CC et al: Ultrasound Imaging of Renal Cysts in Children. J Ultrasound Med. 40(3):621-35, 2020
Wicher D et al: Occurrence of portal hypertension and its clinical course in patients with molecularly confirmed autosomal recessive polycystic kidney disease (ARPKD). Front Pediatr. 8:591379, 2020
Garel J et al: Prenatal ultrasonography of autosomal dominant polycystic kidney disease mimicking recessive type: case series. Pediatr Radiol. 49(7):906-12, 2019
Gimpel C et al: Imaging of kidney cysts and cystic kidney diseases in children: an International Working Group consensus statement. Radiology. 290(3):769-82, 2019
Serai SD et al: Diffusion tensor imaging of the kidney in healthy controls and in children and young adults with autosomal recessive polycystic kidney disease. Abdom Radiol (NY). 44(5):1867-72, 2019
Burgmaier K et al: Risk factors for early dialysis dependency in autosomal recessive polycystic kidney disease. J Pediatr. 199:22-8.e6, 2018
Dillman JR et al: Hereditary renal cystic disorders: imaging of the kidneys and beyond. Radiographics. 37(3):924-46, 2017
Curran-Melendez SM et al: Sorting the alphabet soup of renal pathology: a review. Curr Probl Diagn Radiol.47(6):417-27, 2016
Dell KM et al: Kidney disease progression in autosomal recessive polycystic kidney disease. J Pediatr. 171:196-201.e1, 2016
Park E et al: Hepatorenal fibrocystic diseases in children. Pediatr Nephrol. 31(1):113-9, 2016
Büscher R et al: Combined liver and kidney transplantation and kidney after liver transplantation in children: Indication, postoperative outcome, and long-term results. Pediatr Transplant. 19(8):858-65, 2015
Cramer MT et al: Cystic kidney disease: a primer. Adv Chronic Kidney Dis. 22(4):297-305, 2015
Obusez EC et al: Autosomal recessive polycystic kidney disease with Caroli syndrome. J Urol. 193(2):679-80, 2015
Guay-Woodford LM: Autosomal recessive polycystic kidney disease: the prototype of the hepato-renal fibrocystic diseases. J Pediatr Genet. 3(2):89-101, 2014
Guay-Woodford LM et al: Consensus expert recommendations for the diagnosis and management of autosomal recessive polycystic kidney disease: report of an international conference. J Pediatr. 165(3):611-7, 2014
Hartung EA et al: Autosomal recessive polycystic kidney disease: a hepatorenal fibrocystic disorder with pleiotropic effects. Pediatrics. 134(3):e833-45, 2014
Sweeney WE Jr et al: Diagnosis and management of childhood polycystic kidney disease. Pediatr Nephrol. 26(5):675-92, 2011
Turkbey B et al: Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis (ARPKD/CHF). Pediatr Radiol. 39(2):100-11, 2009
Bergmann C et al: Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD). Kidney Int. 67(3):829-48, 2005
Traubici J et al: High-resolution renal sonography in children with autosomal recessive polycystic kidney disease. AJR Am J Roentgenol. 184(5):1630-3, 2005
Zerres K et al: New options for prenatal diagnosis in autosomal recessive polycystic kidney disease by mutation analysis of the PKHD1 gene. Clin Genet. 66(1):53-7, 2004
Guay-Woodford LM et al: Autosomal recessive polycystic kidney disease: the clinical experience in North America. Pediatrics. 111(5 Pt 1):1072-80, 2003
Stein-Wexler R et al: Sonography of macrocysts in infantile polycystic kidney disease. J Ultrasound Med. 22(1):105-7, 2003
Avni FE et al: Hereditary polycystic kidney diseases in children: changing sonographic patterns through childhood. Pediatr Radiol. 32(3):169-74, 2002
Related Anatomy
Loading...
Related Differential Diagnoses
Loading...
References
Tables
Tables
KEY FACTS
Terminology
Imaging
Pathology
Clinical Issues
TERMINOLOGY
Synonyms
Infantile polycystic kidney disease
Definitions
Autosomal recessive polycystic kidney disease (ARPKD): Single gene ciliopathy characterized by dilated, distal, convoluted tubules & collecting ducts
IMAGING
General Features
Radiographic Findings
Ultrasonographic Findings
MR Findings
CT Findings
Nuclear Medicine Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
Gross Pathologic & Surgical Features
Microscopic Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
Selected References
Benz EG et al: Predictors of progression in autosomal dominant and autosomal recessive polycystic kidney disease. Pediatr Nephrol. 36(9):2639-58, 2021
Akarkach A et al: Maintenance peritoneal dialysis in children with autosomal recessive polycystic kidney disease: a comparative cohort study of the International Pediatric Peritoneal Dialysis Network Registry. Am J Kidney Dis. 75(3):460-4, 2020
Dorval G et al: Long-term kidney and liver outcome in 50 children with autosomal recessive polycystic kidney disease. Pediatr Nephrol. 36(5):1165-73, 2020
Hartung EA et al: Magnetic resonance elastography to quantify liver disease severity in autosomal recessive polycystic kidney disease. Abdom Radiol (NY). 46(2):570-80, 2020
Meyers ML et al: Imaging of fetal cystic kidney disease: multicystic dysplastic kidney versus renal cystic dysplasia. Pediatr Radiol. 50(13):1921-33, 2020
Overman RE et al: Early nephrectomy in neonates with symptomatic autosomal recessive polycystic kidney disease. J Pediatr Surg. 56(2):328-31, 2020
Thomas CC et al: Ultrasound Imaging of Renal Cysts in Children. J Ultrasound Med. 40(3):621-35, 2020
Wicher D et al: Occurrence of portal hypertension and its clinical course in patients with molecularly confirmed autosomal recessive polycystic kidney disease (ARPKD). Front Pediatr. 8:591379, 2020
Garel J et al: Prenatal ultrasonography of autosomal dominant polycystic kidney disease mimicking recessive type: case series. Pediatr Radiol. 49(7):906-12, 2019
Gimpel C et al: Imaging of kidney cysts and cystic kidney diseases in children: an International Working Group consensus statement. Radiology. 290(3):769-82, 2019
Serai SD et al: Diffusion tensor imaging of the kidney in healthy controls and in children and young adults with autosomal recessive polycystic kidney disease. Abdom Radiol (NY). 44(5):1867-72, 2019
Burgmaier K et al: Risk factors for early dialysis dependency in autosomal recessive polycystic kidney disease. J Pediatr. 199:22-8.e6, 2018
Dillman JR et al: Hereditary renal cystic disorders: imaging of the kidneys and beyond. Radiographics. 37(3):924-46, 2017
Curran-Melendez SM et al: Sorting the alphabet soup of renal pathology: a review. Curr Probl Diagn Radiol.47(6):417-27, 2016
Dell KM et al: Kidney disease progression in autosomal recessive polycystic kidney disease. J Pediatr. 171:196-201.e1, 2016
Park E et al: Hepatorenal fibrocystic diseases in children. Pediatr Nephrol. 31(1):113-9, 2016
Büscher R et al: Combined liver and kidney transplantation and kidney after liver transplantation in children: Indication, postoperative outcome, and long-term results. Pediatr Transplant. 19(8):858-65, 2015
Cramer MT et al: Cystic kidney disease: a primer. Adv Chronic Kidney Dis. 22(4):297-305, 2015
Obusez EC et al: Autosomal recessive polycystic kidney disease with Caroli syndrome. J Urol. 193(2):679-80, 2015
Guay-Woodford LM: Autosomal recessive polycystic kidney disease: the prototype of the hepato-renal fibrocystic diseases. J Pediatr Genet. 3(2):89-101, 2014
Guay-Woodford LM et al: Consensus expert recommendations for the diagnosis and management of autosomal recessive polycystic kidney disease: report of an international conference. J Pediatr. 165(3):611-7, 2014
Hartung EA et al: Autosomal recessive polycystic kidney disease: a hepatorenal fibrocystic disorder with pleiotropic effects. Pediatrics. 134(3):e833-45, 2014
Sweeney WE Jr et al: Diagnosis and management of childhood polycystic kidney disease. Pediatr Nephrol. 26(5):675-92, 2011
Turkbey B et al: Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis (ARPKD/CHF). Pediatr Radiol. 39(2):100-11, 2009
Bergmann C et al: Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD). Kidney Int. 67(3):829-48, 2005
Traubici J et al: High-resolution renal sonography in children with autosomal recessive polycystic kidney disease. AJR Am J Roentgenol. 184(5):1630-3, 2005
Zerres K et al: New options for prenatal diagnosis in autosomal recessive polycystic kidney disease by mutation analysis of the PKHD1 gene. Clin Genet. 66(1):53-7, 2004
Guay-Woodford LM et al: Autosomal recessive polycystic kidney disease: the clinical experience in North America. Pediatrics. 111(5 Pt 1):1072-80, 2003
Stein-Wexler R et al: Sonography of macrocysts in infantile polycystic kidney disease. J Ultrasound Med. 22(1):105-7, 2003
Avni FE et al: Hereditary polycystic kidney diseases in children: changing sonographic patterns through childhood. Pediatr Radiol. 32(3):169-74, 2002
STATdx includes over 200,000 searchable images, including x-ray, CT, MR, and ultrasound images. To access all images, please log in or subscribe.