Results 11 to 20 of about 23,951 (234)

Autosomal dominant and autosomal recessive polycystic kidney disease: hypertension and secondary cardiovascular effect in children

Frontiers in Molecular Biosciences, 2023
Autosomal dominant (ADPKD) and autosomal recessive (ARPKD) polycystic kidney disease are the most widely known cystic kidney diseases. They are significantly different from each other in terms of genetics and clinical manifestations.
L. Lucchetti, M. Chinali, F. Emma, L. Massella   +3 more
doaj   +2 more sources

Therapeutic Potential for CFTR Correctors in Autosomal Recessive Polycystic Kidney DiseaseSummary

Cellular and Molecular Gastroenterology and Hepatology, 2021
Background & Aims: Autosomal recessive polycystic kidney disease (ARPKD) is caused by mutations in PKHD1, encoding fibrocystin/polyductin (FPC). Severe disease occurs in perinates. Those who survive the neonatal period face a myriad of comorbidities,
Murali K. Yanda, Vartika Tomar, Liudmila Cebotaru   +2 more
doaj   +2 more sources

Autosomal recessive polycystic kidney disease [PDF]

American Journal of Obstetrics and Gynecology, 2021
Kate Swanson
semanticscholar   +5 more sources

Clinical and genetic characteristics of autosomal recessive polycystic kidney disease in Oman

BMC Nephrology, 2020
Background There is a high prevalence of rare genetic disorders in the Middle East, and their study provides unique clinical and genetic insights. Autosomal recessive polycystic kidney disease (ARPKD) is one of the leading causes of kidney and liver ...
Intisar Al Alawi, Elisa Molinari, Issa Al Salmi, Fatma Al Rahbi, Adhra Al Mawali, John A. Sayer   +5 more
doaj   +2 more sources

Genetics of Autosomal Recessive Polycystic Kidney Disease and Its Differential Diagnoses

Frontiers in Pediatrics, 2018
Autosomal recessive polycystic kidney disease (ARPKD) is a hepatorenal fibrocystic disorder that is characterized by enlarged kidneys with progressive loss of renal function and biliary duct dilatation and congenital hepatic fibrosis that leads to portal
Carsten Bergmann, Carsten Bergmann
doaj   +2 more sources

CRISPR-Cas9-Generated TXNDC15 c.560delA Homozygous Mouse Model Exhibits Meckel-Gruber Syndrome Phenotype. [PDF]

Genesis
ABSTRACT To determine whether TXNDC15 variation causes Meckel–Gruber syndrome (MKS), we assessed the pathogenicity of the frameshift variant c.560delA. A CRISPR–Cas9 generated mouse model carrying the equivalent Txndc15 c.512delA mutation was analyzed at embryonic day 15.5.
Liu Y, Wang H, Chen L, Wu X, Xu Z, Huang Q, Zhang H, Cao X, Liang X, Zhong X, Luo C.   +10 more
europepmc   +2 more sources

Design of two ongoing clinical trials of tolvaptan in the treatment of pediatric patients with autosomal recessive polycystic kidney disease

BMC Nephrology, 2023
Purpose Autosomal recessive polycystic kidney disease (ARPKD) is a hereditary condition characterized by massive kidney enlargement and developmental liver defects.
D. Mekahli, M. Liebau, M. Cadnapaphornchai, S. Goldstein, L. Greenbaum, M. Litwin, T. Seeman, F. Schaefer, L. Guay-Woodford   +8 more
semanticscholar   +1 more source

A Potential Therapy Using Antisense Oligonucleotides to Treat Autosomal Recessive Polycystic Kidney Disease

Journal of Clinical Medicine, 2023
(1) Background: Autosomal recessive polycystic kidney disease (ARPKD) is a rare ciliopathy characterized by progressively enlarged kidneys with fusiform dilatation of the collecting ducts.
Huixia Li, Chunli Wang, R. Che, B. Zheng, Wei Zhou, Songming Huang, Zhanjun Jia, A. Zhang, F. Zhao, G. Ding   +9 more
semanticscholar   +1 more source

TRPV4 functional status in cystic cells regulates cystogenesis in autosomal recessive polycystic kidney disease during variations in dietary potassium

Physiological Reports, 2023
Mechanosensitive TRPV4 channel plays a dominant role in maintaining [Ca2+]i homeostasis and flow‐sensitive [Ca2+]i signaling in the renal tubule. Polycystic kidney disease (PKD) manifests as progressive cyst growth due to cAMP‐dependent fluid secretion ...
Kyrylo A. Pyrshev, Anna Stavniichuk, Viktor N Tomilin, N. Khayyat, G. Ren, Mariya Kordysh, Oleg L. Zaika, M. Mamenko, O. Pochynyuk   +8 more
semanticscholar   +1 more source

The molecular structure and function of fibrocystin, the key gene product implicated in autosomal recessive polycystic kidney disease (ARPKD)

Annals of Human Genetics, 2023
Autosomal recessive polycystic kidney disease is an early onset inherited hepatorenal disorder affecting around 1 in 20,000 births with no approved specific therapies. The disease is almost always caused by variations in the polycystic kidney and hepatic
Travis A K Bannell, Joseph J B Cockburn
semanticscholar   +1 more source