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Renal tubular acidosis

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6 papers 0 to 25 followers
By P O Pediatrics, Nephrology
https://www.readbyqxmd.com/read/27493007/the-need-for-genetic-study-to-diagnose-some-cases-of-distal-renal-tubular-acidosis
#1
Manuel Heras Benito, Miguel A Garcia-Gonzalez, María Valdenebro Recio, Álvaro Molina Ordás, Ramiro Callejas Martínez, María Astrid Rodríguez Gómez, Leonardo Calle García, Lisbeth Sousa Silva, María José Fernández-Reyes Luis
We describe the case of a young woman who was diagnosed with advanced kidney disease, with an incidental finding of nephrocalcinosis of unknown aetiology, having been found asymptomatic throughout her life. The genetic study by panels of known genes associated with tubulointerstitial disease allowed us to discover autosomal dominant distal renal tubular acidosis associated with a de novo mutation in exon 14 of the SLC4A1 gene, which would have been impossible to diagnose clinically due to the advanced nature of the kidney disease when it was discovered...
September 2016: Nefrología: Publicación Oficial de la Sociedad Española Nefrologia
https://www.readbyqxmd.com/read/23235953/proximal-renal-tubular-acidosis-a-not-so-rare-disorder-of-multiple-etiologies
#2
REVIEW
Syed K Haque, Gema Ariceta, Daniel Batlle
Proximal renal tubular acidosis (RTA) (Type II RTA) is characterized by a defect in the ability to reabsorb HCO(3) in the proximal tubule. This is usually manifested as bicarbonate wastage in the urine reflecting that the defect in proximal tubular transport is severe enough that the capacity for bicarbonate reabsorption in the thick ascending limb of Henle's loop and more distal nephron segments is overwhelmed. More subtle defects in proximal bicarbonate transport likely go clinically unrecognized owing to compensatory reabsorption of bicarbonate distally...
December 2012: Nephrology, Dialysis, Transplantation
https://www.readbyqxmd.com/read/24101904/molecular-mechanisms-of-renal-and-extrarenal-manifestations-caused-by-inactivation-of-the-electrogenic-na-hco3-cotransporter-nbce1
#3
REVIEW
George Seki, Shoko Horita, Masashi Suzuki, Osamu Yamazaki, Tomohiko Usui, Motonobu Nakamura, Hideomi Yamada
The electrogenic Na(+)-HCO3 (-) cotransporter NBCe1 plays an essential role in bicarbonate absorption from renal proximal tubules, but also mediates the other biological processes in extrarenal tissues such as bicarbonate secretion from pancreatic ducts, maintenance of tissue homeostasis in eye, enamel maturation in teeth, or local pH regulation in synapses. Homozygous mutation in NBCe1 cause proximal renal tubular acidosis (pRTA) associated with extrarenal manifestations such as short stature, ocular abnormalities, enamel abnormalities, and migraine...
2013: Frontiers in Physiology
https://www.readbyqxmd.com/read/24391589/proximal-renal-tubular-acidosis-mediated-by-mutations-in-nbce1-a-unraveling-the-transporter-s-structure-functional-properties
#4
REVIEW
Ira Kurtz, Quansheng Zhu
NBCe1 belongs to the SLC4 family of base transporting membrane proteins that plays a significant role in renal, extrarenal, and systemic acid-base homeostasis. Recent progress has been made in characterizing the structure-function properties of NBCe1 (encoded by the SLC4A4 gene), and those factors that regulate its function. In the kidney, the NBCe1-A variant that is expressed on the basolateral membrane of proximal tubule is the key transporter responsible for overall transepithelial bicarbonate absorption in this nephron segment...
December 19, 2013: Frontiers in Physiology
https://www.readbyqxmd.com/read/24982885/roles-of-renal-proximal-tubule-transport-in-acid-base-balance-and-blood-pressure-regulation
#5
REVIEW
Motonobu Nakamura, Ayumi Shirai, Osamu Yamazaki, Nobuhiko Satoh, Masashi Suzuki, Shoko Horita, Hideomi Yamada, George Seki
Sodium-coupled bicarbonate absorption from renal proximal tubules (PTs) plays a pivotal role in the maintenance of systemic acid/base balance. Indeed, mutations in the Na(+)-HCO3 (-) cotransporter NBCe1, which mediates a majority of bicarbonate exit from PTs, cause severe proximal renal tubular acidosis associated with ocular and other extrarenal abnormalities. Sodium transport in PTs also plays an important role in the regulation of blood pressure. For example, PT transport stimulation by insulin may be involved in the pathogenesis of hypertension associated with insulin resistance...
2014: BioMed Research International
https://www.readbyqxmd.com/read/26526475/-nail-changes-associated-with-distal-renal-tubular-acidosis-in-pediatric-patients
#6
Miguel Ángel Cardona-Hernández, Leonel Fierro-Arias, Fermín Jurado-Santa Cruz, Maribet González-González, Mónica Olivia Rivera-Martínez, Mónica Elizabeth De la Torre-García, Ana Luisa Cabrera-Pérez
Renal tubular acidosis is a disease prevalent in childhood, responsible for a decrease in growth due inadequate acid-base levels regulation. It is well known that systemic conditions can generate or accompany nail changes by different pathophysiologic mechanisms, however no one has ever found or reported any association of onychopathy with renal tubular acidosis so far. That is why we would like to share our experience on this topic.
September 2015: Gaceta Médica de México
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