Results 31 to 40 of about 2,905 (217)

Autosomal Recessive Polycystic Kidney Disease (ARPKD)

open access: diamondMedical Image Database, 2018
Autosomal recessive polycystic kidney disease (ARPKD) is an important inherited cause of chronic kidney disease with an estimated incidence of 1 in 20,000 live births [1-3]. Mutations of the PKHD1 (polycystic kidney and hepatic disease 1) gene located on chromosome 6p12, are responsible for the entire spectrum of ARPKD [2].
Dumitru Vasile Adrian   +2 more
openalex   +2 more sources

A Longitudinal Case Study of Renal Cyst Progression and Regression in Trisomy 13. [PDF]

open access: yesClin Case Rep
Multiple T2‐weighted high‐signal‐intensity structures were observed in both kidneys accompanied by bilateral renal enlargement in a male neonate with trisomy 13. ABSTRACT Trisomy 13 is a chromosomal disorder frequently associated with congenital anomalies, including polycystic kidney disease (PKD).
Yamabe F   +4 more
europepmc   +2 more sources

ARPKD and ADPKD [PDF]

open access: yesJournal of the American Society of Nephrology, 2008
Superficially, autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD) seem to be more different than alike. ADPKD is common, its cysts arise from any nephron segment, and it is slowly progressive.[1][1] Hepatic cysts are its primary ...
Jun-ya Kaimori, Gregory G. Germino
openaire   +2 more sources

Rapidly progressive nephromegaly in a neonate with autosomal recessive poly cystic kidney disease [PDF]

open access: yesJournal of Nephropathology, 2017
Background: Autosomal recessive polycystic kidney disease (ARPKD) associates with significant renal and liver-related morbidity and mortality in children. Rarely severe enlargement of kidneys necessitates nephrectomy and initiating dialysis.
Mitra Naseri   +3 more
doaj   +1 more source

Mosaic PKHD1 in Polycystic Kidneys Caused Aberrant Protein Expression in the Mitochondria and Lysosomes

open access: yesFrontiers in Medicine, 2021
Autosomal recessive polycystic kidney disease (ARPKD) is a severe renal cystic disease caused mainly by the polycystic kidney and hepatic disease 1 (PKHD1).
Chengxian Xu   +14 more
doaj   +1 more source

Short-Term Outcome of Isolated Kidney Transplantation in Children with Autosomal Recessive Polycystic Kidney Disease: A Case Series and Literature Review

open access: yesClinics and Practice, 2023
Autosomal recessive polycystic kidney disease (ARPKD) is often associated with hepatobiliary disease in the form of hepatic fibrosis and/or Caroli disease.
Ratna Acharya, Kiran Upadhyay
doaj   +1 more source

Diagnosis and Management of Hepatobiliary Complications in Autosomal Recessive Polycystic Kidney Disease

open access: yesFrontiers in Pediatrics, 2017
Autosomal recessive polycystic kidney disease (ARPKD) is a congenital hepatorenal fibrocystic disease. The hepatic manifestations of ARPKD can range from asymptomatic to portal hypertension and massively dilated biliary system that results in liver ...
Andrew Wehrman   +2 more
doaj   +1 more source

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