congenital hepatic fibrosis (chf) is a rare disease that affects both the liver and kidneys.  congenital hepatic fibrosis (chf) is an autosomal recessive inherited malformation defined pathologically by a variable degree of periportal fibrosis and irregularly shaped proliferating bile ducts. affected individuals also have impaired renal function, usually caused, in children and teenagers, by an...

cation about genetic risk: a qualitative study, learning from families’ experiences. Eur J Hum Genet 2011; 19: 640–646 13. Chapman A. KIDIGO Controversies Conference on Autosomal Dominant Polycystic Kidney Disease. 2014. Available from: http://kdigo.org/home/ conferences/adpkd/ 14. European ADPKD Forum Report: Translating science into policy to improve ADPKD care. 2015. Available from: http://w...

Autosomal dominant polycystic kidney disease (ADPKD) can affect several organs in addition to the kidney. There is paucity in the literature on the cardiac manifestations of this disease. This retrospective study aimed to assess whether ADPKD was associated with a larger coronary artery diameter and to evaluate for the presence of coronary artery aneurysm and ectasia. This study shows that subj...

Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary kidney disease. It is characterized by progressive cyst formation in both kidneys, often leading to end-stage kidney disease. Indications for surgical removal of an ADPKD kidney include intractable pain, hematuria, infection, or exceptional enlargement and small abdominal cavity hampering implantation of a donor ...

The complications of autosomal dominant polycystic kidney disease (ADPKD) include cyst rupture and haemorrhage leading to loin pain and frank haematuria. Risk factors include large kidney volume, hypertension, and renal impairment. We present a case of a young male who, following trauma to the kidney, had a life threatening bleed from his polycystic kidney. The case was initially treated with f...

The omission of outcomes that are relevance to patients, clinicians, and regulators across trials in autosomal dominant polycystic kidney disease (ADPKD) limits shared decision making. Standardized Outcomes Nephrology–Polycystic Kidney Disease (SONG-PKD) Initiative convened an international consensus workshop on October 25, 2018, discuss the identification implementation a potential core outcom...

Cystic kidney diseases comprise a varied collection of hereditary disorders, where renal cysts comprise a major element of their pleiotropic phenotype. In pediatric patients, the term polycystic kidney disease (PKD) commonly refers to two specific hereditary diseases, autosomal recessive polycystic kidney disease (ARPKD) and autosomal dominant polycystic kidney disease (ADPKD). Remarkable progr...

Autosomal dominant polycystic kidney disease (ADPKD) is a common hereditary kidney disease caused due to a mutation in PKD1 gene and the PKD2 gene located at chromosome level 16 and chromosome 4. ADPKD often leads to progressive kidney (renal) failure, primarily due to continued enlargement of the cysts and replacement of normal kidney tissue. The present case is of a 70-year-old male diabetic ...