Results 51 to 60 of about 6,399 (205)

Molecular developments in renal tubulopathies [PDF]

Archives of Disease in Childhood, 2000
The renal tubule is responsible for the reabsorption of more than 99% of the water and sodium in the glomerular ultrafiltrate. Congenital or acquired tubular dysfunction can therefore readily cause profound electrolyte and volume disturbance. The tubule also has to regulate acid–base balance, mineral homoeostasis, and the excretion of organic anions ...
openaire   +2 more sources

Generation and validation of a zebrafish model of EAST (epilepsy, ataxia, sensorineural deafness and tubulopathy) syndrome [PDF]

, 2013
SUMMARY Recessive mutations in KCNJ10, which encodes an inwardly rectifying potassium channel, were recently identified as the cause of EAST syndrome, a severe and disabling multi-organ disorder consisting of epilepsy, ataxia, sensorineural deafness and ...
Tobin, J, Robert Kleta, Beales, P L, Philip L. Beales, Fahad Mahmood, Detlef Bockenhauer, Stanescu, H C, Jonathan Tobin, Zdebik, A A, Kleta, R, Bockenhauer, D, Monika Mozere, Russell, C, Kaminskaite, M, Horia C. Stanescu, Anselm A. Zdebik, Mahmood, F, Claire Russell   +17 more
core   +1 more source

The Impact of Gitelman Syndrome on Cardiovascular Disease: From Physiopathology to Clinical Management

Reviews in Cardiovascular Medicine, 2022
Gitelman syndrome (GS), or congenital hypokalemic hypomagnesemia hypocalciuria with metabolic alkalosis, is a congenital inherited tubulopathy. This tubulopathy is associated with disorders of water-electrolyte homeostasis, such as metabolic alkalosis ...
Andrea Bezzeccheri, Gianluca Di Giovanni, Martina Belli, Rocco Mollace, Lucy Barone, Massimiliano Macrini, Alessio Di Landro, Saverio Muscoli   +7 more
doaj   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Data_Sheet_2_Screening for an Underlying Tubulopathy in Children With Growth Failure, Simply Maths?.PDF

, 2022
BackgroundInvolving pediatric nephrological input in the clinical diagnostic work-up of children with short stature, gave rise to the hypothesis that the presence of an underlying renal tubular disorder in children with short stature is possibly ...
Caroline Becue (13048944), Kristien J. Ledeganck (9030824), Dominique Trouet (6260894), Ines Somers (13048950), Britt Ceuleers (13048947), Hilde Dotremont (13048953), Marieke den Brinker (12989381)   +6 more
core   +1 more source

Profound neonatal lactic acidosis and renal tubulopathy in a patient with glycogen storage disease type IXɑ2 secondary to a de novo pathogenic variant in PHKA2

Molecular Genetics and Metabolism Reports, 2021
The phenotype of individuals with glycogen storage disease (GSD) IX appears to be highly variable, even within subtypes. Features include short stature, fasting hypoglycemia with ketosis, hepatomegaly, and transaminitis.
J. Andres Morales, Christina G. Tise, Amrita Narang, Paul C. Grimm, Gregory M. Enns, Chung U. Lee   +5 more
doaj   +1 more source

GSK3β drives early diabetic tubulopathy via TFEB‐mediated mitochondrial dysfunction

Interdisciplinary Medicine, EarlyView.
Mitochondrial dysfunction, including mitochondrial biogenesis, mitophagy, dynamics and oxidative stress, occurs in the early stages of diabetic tubulopathy, which precede proteinuria and renal histological changes. GSK3β is a potential novel biomarker for the prediction of diabetic tubulopathy.
Lan Yao, Xianhui Liang, Bingyu Li, Bohan Chen, Xiaoyang Wang, Mei Hong, Qi Feng, Yingjin Qiao, Zhangsuo Liu, Kai Wang, Pei Wang   +10 more
wiley   +1 more source

Mitochondrial Dysfunction in Kidney Tubulopathies [PDF]

Annual Review of Physiology
Mitochondria play a key role in kidney physiology and pathology. They produce ATP to fuel energy-demanding water and solute reabsorption processes along the nephron. Moreover, mitochondria contribute to cellular health by the regulation of autophagy, (oxidative) stress responses, and apoptosis.
Hoogstraten, C.A., Hoenderop, J.G., Baaij, J.H.F. de   +2 more
openaire   +2 more sources

Data_Sheet_1_Screening for an Underlying Tubulopathy in Children With Growth Failure, Simply Maths?.PDF

, 2022
BackgroundInvolving pediatric nephrological input in the clinical diagnostic work-up of children with short stature, gave rise to the hypothesis that the presence of an underlying renal tubular disorder in children with short stature is possibly ...
Caroline Becue (13048944), Kristien J. Ledeganck (9030824), Dominique Trouet (6260894), Ines Somers (13048950), Britt Ceuleers (13048947), Hilde Dotremont (13048953), Marieke den Brinker (12989381)   +6 more
core   +1 more source

Resolution of proximal tubular dysfunction after liver transplantation in ATP8B1 deficiency: A case report

JPGN Reports, EarlyView.
Abstract Progressive familial intrahepatic cholestasis type 1 (PFIC1), caused by ATP8B1 deficiency, is a multisystem disorder with extrahepatic manifestations; however, renal involvement has rarely been described. We report a child with genetically confirmed PFIC1 who underwent living donor liver transplantation (LT) for progressive liver disease ...
Angela Marino, Nathalie Godefroid, Catherine De Magnée, Xavier Stephenne   +3 more
wiley   +1 more source