Genetic Kidney Disease in Southern Tasmania [PDF]
Kidney International Reports, 2020 [Extract] Evidence suggests that 1.7 million persons (10% of the Australian adult population) are living with chronic kidney disease (CKD).1 Within the Australian CKD population, around 10% of individuals are found to have a genetic cause for their kidney disease.2 As genomic sequencing technology becomes more mainstreamed, the identification of ...
Gabrielle Brailsford +6 more
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Combined Preimplantation Genetic Testing for Genetic Kidney Disease: Genetic Risk Identification, Assisted Reproductive Cycle, and Pregnancy Outcome Analysis [PDF]
Frontiers in Medicine, 2022 BackgroundGenetic kidney disease is a major cause of morbidity and mortality in neonates and end-stage renal disease (ESRD) in children and adolescents. Genetic diagnosis provides key information for early identification of congenital kidney disease and ...
Min Xiao +11 more
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Coexisting genetic kidney disease explains many cases of ‘familial’ IgA nephropathy where the proband has biopsy-confirmed mesangial IgA deposits [PDF]
Frontiers in MedicineBackgroundOne in seven people with IgA nephropathy has another apparently-affected family member. This study examined how often biopsy-proven familial and sporadic IgA nephropathy were associated with genetic kidney disease.MethodsEleven unrelated people
YuXin Li +15 more
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Autosomal dominant tubulointerstitial kidney disease-UMOD is the most frequent non polycystic genetic kidney disease [PDF]
BMC Nephrology, 2018 Background Autosomal dominant tubulointerstitial kidney disease (ADTKD) caused by mutations in the UMOD gene (ADTKD-UMOD) is considered rare and often remains unrecognised.
Christine Gast +13 more
doaj +2 more sources
Clinical Genetic Testing in Children with Kidney Disease [PDF]
Childhood Kidney Diseases, 2021 Chronic kidney disease, the presence of structural and functional abnormalities in the kidneys, is associated with a lower quality of life and increased morbidity and mortality in children.
Eungu Kang, Beom Hee Lee
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Genetics of kidney stone disease [PDF]
Nature Reviews Urology, 2020 Kidney stone disease (nephrolithiasis) is a common problem that can be associated with alterations in urinary solute composition including hypercalciuria. Studies suggest that the prevalence of monogenic kidney stone disorders, including renal tubular acidosis with deafness, Bartter syndrome, primary hyperoxaluria and cystinuria, in patients attending ...
Sarah A. Howles, Rajesh V. Thakker
openaire +3 more sources
Robo2 and Gen1 Coregulate Ureteric Budding by Activating the MAPK/ERK Signaling Pathway in Mice
Frontiers in Medicine, 2022 Congenital anomalies of the kidney and urinary tract (CAKUT) are some of the most common developmental defects and have a complicated etiology, indicating an interaction of (epi-) genetic and environmental factors.
Yaxin Li +8 more
doaj +1 more source
Kidney Diseases, 2021 Background: Gen1 mutation can cause various phenotypes of congenital anomaly of the kidney and urinary tract (CAKUT). An intrauterine low-protein isocaloric diet can also cause CAKUT phenotypes in offspring.
Minghui Yu +11 more
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Clinical and genetic characteristics of Korean autosomal dominant polycystic kidney disease patients [PDF]
The Korean Journal of Internal Medicine, 2021 Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary kidney disease. It is characterized by cyst growth in the kidneys, resulting in kidney enlargement and end-stage kidney disease. The polycystic kidney disease 1 (PKD1) and
Yun Kyu Oh +4 more
doaj +1 more source
Overexpression of Long Non-coding RNA 4933425B07Rik Causes Urinary Malformations in Mice
Frontiers in Cell and Developmental Biology, 2021 Congenital anomalies of the kidney and urinary tract (CAKUT) is a common birth defect and is the leading cause of end-stage renal disease in children. The etiology of CAKUT is complex and includes mainly genetic and environmental factors.
Lihong Tan +12 more
doaj +1 more source