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Genetics
Published in Karl H. Pang, Nadir I. Osman, James W.F. Catto, Christopher R. Chapple, Basic Urological Sciences, 2021
Examples:Congenital adrenal hyperplasia (6p).Autosomal recessive polycystic kidney disease (6p).Cystinuria (2p, 19q).Cystic fibrosis (7q).Kartagener’s syndrome.5-alpha reductase type 2 deficiency (2p).Sickle cell disease (11p).
Cystic disease of the kidneys
Published in Brice Antao, S Irish Michael, Anthony Lander, S Rothenberg MD Steven, Succeeding in Paediatric Surgery Examinations, 2017
Autosomal recessive polycystic kidney disease can be diagnosed antenatally when there are bilateral renal cysts causing renal enlargement. The kidneys may become so huge (up to 10 times the normal size) that vaginal delivery is impossible. The cysts are usually small and diffuse across the parenchyma of the kidneys. There may or may not be a family history of ARPKD, as it is transmitted in an autosomal recessive manner, giving a risk of 25%.
Analysis of urinary exosomes applications for rare kidney disorders
Published in Expert Review of Proteomics, 2020
Isabella Panfoli, Simona Granata, Giovanni Candiano, Alberto Verlato, Gianmarco Lombardi, Maurizio Bruschi, Gianluigi Zaza
Polycystic kidney disease (PKD) is a family of hereditary disorders characterized by a progressive growth and enlargement of numerous fluid-filled cysts, that disrupt the kidney parenchyma, leading to interstitial fibrosis, cellular infiltration, and the loss of functional nephrons. PKD includes autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD). ADPKD has a prevalence of 0.1–0.25% [88] and is caused by mutations in the PKD1 or PKD2 gene, encoding for polycystin-1 (PC1) and polycystin-2 (PC2) proteins, respectively [89,90]. The main role of PC1 and PC2 is the formation of a protein complex that acts as a receptor-ion channel in primary cilia [91,92], minute membrane-encased microtubule-based structures that protrude from the apical surface of kidney tubule epithelial cells and that is used by cells as a sensory organelle for signal integration.
A rare case of hemodialysis-related portosystemic encephalopathy and review of the literature.
Published in Acta Clinica Belgica, 2020
Barbara Geerinckx, Rachel Hellemans, Amaryllis H. Van Craenenbroeck, Sven Francque, Liesbeth De Waele, Jeroen Kerstens, Pieter-Jan Van Gaal, Bart Bracke, Peter Michielsen, Thomas Vanwolleghem
We present a 22-year old man who suddenly developed somnolence and confusion at the end of the first half of a hemodialysis session. He was born with congenital liver fibrosis with autosomal recessive polycystic kidney disease (ARPKD) and required renal replacement therapy since the age of 1. He received a first kidney transplant at the age of 4, which failed by the age of 7 due to BK polyomavirus nephropathy. He received a second kidney transplant at the age of 8, which again failed at the age of 20 because of humoral rejection. He has since been treated with dialysis. He started on peritoneal dialysis (PD) but due to PD catheter dysfunction he switched to hemodialysis one and a half years later. Since then, he received thrice-weekly hemodialysis via a tunnelled central venous catheter in the right jugular vein. The patient also suffered from congenital liver fibrosis with portal hypertension. A transjugular intrahepatic portosystemic shunt (TIPS) was placed at the age of 7 because of portal hypertension with refractory ascites and hypersplenism with anemia and leukopenia. At the age of 8 a splenectomy had to be performed for deep thrombocytopenia due to persistent splenomegaly with hypersplenism.
Exome sequencing of Saudi Arabian patients with ADPKD
Published in Renal Failure, 2019
Fahad A. Al-Muhanna, Abdullah M. Al-Rubaish, Chittibabu Vatte, Shamim Shaikh Mohiuddin, Cyril Cyrus, Arafat Ahmad, Mohammed Shakil Akhtar, Mohammad Ahmad Albezra, Rudaynah A. Alali, Afnan F. Almuhanna, Kai Huang, Lusheng Wang, Feras Al-Kuwaiti, Tamer S. Ahmed Elsalamouni, Abdullah Al Hwiesh, Xiaoyan Huang, Brendan Keating, Jiankang Li, Matthew B. Lanktree, Amein K. Al-Ali
Polycystic kidney disease (PKD) is the most common inherited multi-systemic disease characterized by the progressive development of kidney cysts with consequent enlargement of the kidney and progression toward end-stage renal disease (ESRD) [1,2]. Kidney cysts range in size from microscopic to many centimeters in diameter, leading to inflammation, regional ischemia, cytokine release, tubular obstruction, and subsequent loss of kidney function. Two forms of PKD include autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD) that are typically distinguishable by their pattern of inheritance, as well as age of onset, hepatic fibrosis, arterial hypertension, kidney morphology, and cyst location [3]. ADPKD is the most prevalent inherited form of kidney disease with an incidence of 1:500 to 1:1000 individuals and is observed in approximately 7%–10% of patients with ESRD [4,5]. Extra-renal formation of cysts, mainly in the liver and pancreas, abnormalities in connective tissues, and aortic and intracranial aneurysms have been reported in ADPKD patients [6]. Hypertension is prevalent among ADPKD patients and usually precedes loss of glomerular filtration rate [7]. Additional cystic kidney phenotypes exist that could be misdiagnosed as ADPKD including multiple simple cysts, autosomal dominant tubulointerstitial nephritis, tuberous sclerosis complex, medullary sponge kidney, HNF1B nephropathy, nephronopthisis, and others [8]. Genetic testing could be useful to clarify the diagnosis in patients with features inconsistent with typical ADPKD.