Clinical Case Reports, Volume 13, Issue 4, April 2025.ABSTRACT RMND1‐related mitochondrial disease is a rare genetic condition that affects multiple organs, including the kidneys. We describe two adult patients whose diagnosis, initiated in childhood, was established through renal gene panel testing, emphasizing the value of genetic testing in uncovering kidney‐related conditions that have a high degree ...
Quinn Stein +12 more
wiley +1 more source
A lower prevalence for recessive disorders in a random mating population is a transient phenomenon during and after a growth phase [PDF]
arXiv, 2020 Despite increasing data from population-wide sequencing studies, the risk for recessive disorders in consanguineous partnerships is still heavily debated. An important aspect that has not sufficiently been investigated theoretically, is the influence of inbreeding on mutation load and incidence rates when the population sizes change.
arxiv
Effects of sex hormones on fluid and solute transport in Madin-Darby canine kidney cells [PDF]
, 1997 Effects of sex hormones on fluid and solute transport in Madin-Darby canine kidney cells. Polycystic kidney disease progresses more rapidly in men than in women.
Lei, Jun +3 more
core +1 more source
Systematic Review of Management Strategies for Alport Syndrome: Implications for Male Patients
Health Science Reports, Volume 8, Issue 4, April 2025.ABSTRACT Background and Aims Alport Syndrome (AS) is a rare genetic disorder characterized by progressive kidney disease, hearing loss, and ocular abnormalities, with an incidence of approximately 1 in 50,000 newborns. Due to the severity of the disease, particularly in males with X‐linked inheritance, this systematic review consolidates current ...
Zouina Sarfraz +10 more
wiley +1 more source
Semi-Automatic Segmentation of Autosomal Dominant Polycystic Kidneys using Random Forests [PDF]
arXiv, 2015 This paper presents a method for 3D segmentation of kidneys from patients with autosomal dominant polycystic kidney disease (ADPKD) and severe renal insufficiency, using computed tomography (CT) data. ADPKD severely alters the shape of the kidneys due to non-uniform formation of cysts.
arxiv
Genetic study of congenital bile-duct dilatation identifies de novo and inherited variants in functionally related genes [PDF]
, 2016 Background: Congenital dilatation of the bile-duct (CDD) is a rare, mostly sporadic, disorder that results in bile retention with severe associated complications. CDD affects mainly Asians.
Campbell, Desmond +12 more
core +1 more source
Autosomal-recessive polycystic kidney disease in children
Pediatrician (St. Petersburg), 2016 The aim of the study was to assess the features of development of renal and extrarenal cysts, arterial hypertension, syndrome of portal hypertension in autosomal recessive polycystic kidney disease (ARPKD) in children. Patients and methods. With the aim of establishing the type of inheritance of polycystic kidney disease the genealogical analysis of ...
Mohamed A Tilouche +4 more
openaire +2 more sources
Transplantation in autosomal recessive polycystic kidney disease: liver and/or kidney? [PDF]
Pediatric Nephrology, 2014 Autosomal recessive polycystic kidney disease (ARPKD) is characterized by enlarged kidneys with dilated collecting ducts and congenital hepatic fibrosis. There is a variable rate of progression of kidney and liver disease. Portal hypertension and Caroli's disease occur from liver involvement that contributes to morbidity and mortality. Approximately 40
Jayanthi Chandar +3 more
openaire +3 more sources
Computation of Total Kidney Volume from CT images in Autosomal Dominant Polycystic Kidney Disease using Multi-Task 3D Convolutional Neural Networks [PDF]
arXiv, 2018 Autosomal Dominant Polycystic Kidney Disease (ADPKD) characterized by progressive growth of renal cysts is the most prevalent and potentially lethal monogenic renal disease, affecting one in every 500-100 people. Total Kidney Volume (TKV) and its growth computed from Computed Tomography images has been accepted as an essential prognostic marker for ...
arxiv
Combined paediatric liver-kidney transplantation: analysis of our experience [PDF]
, 2014 Thesis (M.Med.(General Surgery)--University of the Witwatersrand, Faculty of Health Sciences, 2014.Background. Renal insufficiency is increasingly common in end-stage liver disease and allocation of livers to this category of patient has escalated.
Strobele, Bernd
core