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Lola and Nicole were both born with the rare Autosomal Recessive Polycystic Kidney Disease, which causes cysts to appear in the tubes that produce and transport urine and bile.
Her 10-year-old sister Nicole, also had Autosomal Recessive Polycystic Kidney Disease, but can now eat what she likes after a double organ transplant.
At 28 weeks, scans revealed baby Ellie was suffering from autosomal recessive polycystic kidney disease, a genetic disorder which caused her kidneys to get bigger, put strain on her heart, and stopped her lungs growing properly.
88,89) AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE Autosomal recessive polycystic kidney disease is a cystic variant of PKD emerging from mutations in the PKHD1 gene.
7) In this study we propose a diagnostic classification in 5 categories of the entities presenting with glomerular cysts (Table 1): type I, PKD presenting as a GCK variant of autosomal recessive polycystic kidney disease (ARPKD)/ADPKD (with or without liver disease); type II, hereditary GCK synonymous with GCKD.
This leads to different congenital bile duct disorders, such as Caroli disease and syndrome, autosomal recessive polycystic kidney disease, autosomal dominant polycystic kidney disease, congenital hepatic fibrosis, and bile duct hamartomas (BDHs, also known as von Meyenburg complexes).