In this review, we described the tubular function of each nephron segment followed by the most important changes that may occur in the transporters expressed therein. Thus, knowledge of the changes in renal tubular function allows the understanding and recognition of renal tubular diseases that can cause stillbirth or death in newborns or in childhood. Moreover, children with tubular disorders may progress to chronic renal disease at an early stage of life and they may also show disturbances of growth and development associate or not with neurological dysfunction. Therefore, we used the keyword "inherited tubular disorders" to select the children studies that have been published in the PubMed database since 2006. We hope that this review may help physicians to perform an early diagnosis in patients with tubular disorders allowing a specialized treatment and an improvement in their prognosis and quality of life.
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http://dx.doi.org/10.5935/0101-2800.20150060 | DOI Listing |
Pediatr Nephrol
January 2025
Department of Pediatric Nephrology, Istanbul University- Cerrahpasa, Cerrahpasa Faculty of Medicine, 34098, Istanbul, Turkey.
Autosomal recessive proximal renal tubular acidosis (AR-pRTA) with ocular abnormalities is a rare syndrome caused by variants in the SLC4A4 gene, which encodes Na/HCO3 cotransporter (NBCe1). The syndrome primarily affects the kidneys, but also causes extra-renal manifestations. Pancreatic type NBCe1 is located at the basolateral membrane of the pancreatic ductal cells and together with CFTR chloride channel, it is involved in bicarbonate secretion.
View Article and Find Full Text PDFJ Int Soc Prev Community Dent
December 2024
Assistant professor, Oral and Dental Disease Research Center, Department of Operative Dentistry, Faculty of Dentistry, Zahedan University of Medical Sciences, Zahedan, Iran.
Aim: Tooth sensitivity caused by exposed dentin tubules is a common clinical problem requiring correct treatment methods. Owing to the spread of the COVID-19 virus, it has become common to use different mouthwashes, including 1.5% hydrogen peroxide (HP), before dental procedures.
View Article and Find Full Text PDFIntroduction Nephrotic syndrome, an unusual clinical presentation of IgA nephropathy (IgAN), occurs only in a few cases. The data regarding its clinical characteristics and treatment outcomes are lacking. Material and methods In this retrospective analysis, we reviewed kidney biopsies conducted between January 2007 and December 2018.
View Article and Find Full Text PDFBone Rep
March 2025
Beijing Institute of Dental Research, Beijing Stomatological Hospital, Capital Medical University, Beijing 100050, China.
Background: Gnathodiaphyseal dysplasia (GDD) is a rare autosomal dominant genetic disease characterized by osteosclerosis of the tubular bones and cemento-osseous lesions of the mandibles. () is the pathogenic gene, however, the specific molecular mechanism of GDD remains unclear. Herein, a knockin ( ) mouse model expressing the human mutation p.
View Article and Find Full Text PDFSmall
January 2025
Institute of Smart City and Intelligent Transportation, Southwest Jiaotong University, Chengdu, 610031, China.
Although carbon-based supercapacitors (SCs) hold the advantages of high-power and large-current characteristics, they are difficult to realize ultrahigh-power density (> 200 kW kg) and maintain almost constant energy density at ultrahigh power. This limitation is mainly due to the difficulty in balancing the structural order related to the electrical conductivity of carbon materials and the structural disorder related to the pore structure. Herein, we design a novel super-structured tubular carbon (SSTC) with a crosslinked porous conductive network to solve the structure order-disorder tradeoff effect in carbon materials.
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