Article
Transplantation
Francesco Trepiccione, Steven B. Walsh, Gema Ariceta, Olivia Boyer, Francesco Emma, Roberta Camilla, Pietro Manuel Ferraro, Dieter Haffner, Martin Konrad, Elena Levtchenko, Sergio Camilo Lopez-Garcia, Fernando Santos, Stella Stabouli, Maria Szczepanska, Velibor Tasic, Rezan Topaloglu, Rosa Vargas-Poussou, Tanja Wlodkowski, Detlef Bockenhauer
Summary: Distal renal tubular acidosis (dRTA) is a rare metabolic disorder characterized by impaired acid excretion leading to complications such as bone disease and growth failure. Adequate metabolic control with alkali supplementation is crucial, but there are challenges with treatment adherence among patients.
NEPHROLOGY DIALYSIS TRANSPLANTATION
(2021)
Review
Cell Biology
Min Chen, Xiangchen Gu
Summary: Endocytosis plays a crucial role in kidney diseases, particularly in renal fibrosis, and is affected by other diseases and factors.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2023)
Review
Medicine, Research & Experimental
Biff F. Palmer, Ellie Kelepouris, Deborah J. Clegg
Summary: Renal tubular acidosis (RTA) is a condition where the kidneys are unable to maintain normal acid-base balance due to defects in acid excretion or bicarbonate reabsorption. The three major forms of RTA are distal, proximal, and hyperkalemic, with a rare type 3 that combines features of both distal and proximal RTA. Accurate diagnosis is crucial for optimal patient management, with different treatment options available based on the specific type of RTA diagnosed.
ADVANCES IN THERAPY
(2021)
Article
Physiology
Clayton T. Brady, Aniko Marshall, Chen Zhang, Mark D. Parker
Summary: The sodium-bicarbonate cotransporter (NBCe1) has three primary variants: NBCe1-A, -B and -C. NBCe1-A is essential for reclaiming filtered bicarbonate in renal proximal tubules, while NBCe1-B and -C play a role in the respiratory and renal responses to metabolic acidosis (MAc). In this study, KOb/c mice lacking NBCe1-B and -C were used to investigate their response to MAc. The respiratory response to MAc was impaired in KOb/c mice, leading to a greater severity of acidemia, but the recovery of plasma pH after 3 days of MAc remained intact. KOb/c mice showed greater renal acid-excretion during MAc, indicating a shift of the burden of work from the respiratory system to the kidneys.
FRONTIERS IN PHYSIOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Yan Liu, Wenchao Sheng, Shaowei Hou, Mengzhu Hou, Ying Zhang, Xuetao Wang, Shuyue Zhang, Feiyu Zhou, Chunquan Cai, Wenhong Wang
Summary: This study reports a pRTA patient with the Arg166Trp variant and UPiD (4) pat, and analyzes the function of the Arg166Trp variant.
BIOCHEMICAL GENETICS
(2023)
Article
Multidisciplinary Sciences
Kunihiro Nakai, Minato Umehara, Atsushi Minamida, Hiroko Yamauchi-Sawada, Yasuto Sunahara, Yayoi Matoba, Natsuko Okuno-Ozeki, Itaru Nakamura, Tomohiro Nakata, Aya Yagi-Tomita, Noriko Uehara-Watanabe, Tomoharu Ida, Noriyuki Yamashita, Michitsugu Kamezaki, Yuhei Kirita, Eiichi Konishi, Hiroaki Yasuda, Satoaki Matoba, Keiichi Tamagaki, Tetsuro Kusaba
Summary: Streptozotocin (STZ) is an anti-cancer drug used to treat neuroendocrine tumors (NETs). It enters pancreatic beta-cells or proximal tubular epithelial cells through GLUT2. This study demonstrated the cytotoxic effects of STZ on kidney cells and identified DNA damage and p53 signaling as underlying mechanisms. Inhibition of p53 and SGLT2 mitigated kidney injury caused by STZ, but the cytotoxic effects on pancreatic beta-cells were not affected. These findings suggest the potential use of SGLT2 inhibitors as preventive treatments for kidney injury in NET patients treated with STZ.
SCIENTIFIC REPORTS
(2023)
Review
Pediatrics
Fernando Santos, Helena Gil-Pena
Summary: This article reviews the clinical manifestations and complications of primary distal renal tubular acidosis. The disease is caused by a genetic defect that persists throughout life and often begins in childhood. The paper focuses on the pathogenic factors responsible for kidney failure, emphasizing the importance of maintaining optimal metabolic control of the disease and regular clinical follow-up.
PEDIATRIC NEPHROLOGY
(2023)
Article
Oncology
Xunian Zhou, Fei Xiao, Hikaru Sugimoto, Bingrui Li, Kathleen M. McAndrews, Raghu Kalluri
Summary: By using genetically modified mice, researchers were able to simulate key genetic alterations found in renal cell carcinoma (RCC) and demonstrate the functional role of systemic inflammation and the tumor microenvironment in the development of malignant cancer from preestablished dysplastic precursor lesions.
Article
Biochemistry & Molecular Biology
Marie-Christin Schulz, Virginie Dubourg, Alexander Nolze, Michael Kopf, Gerald Schwerdt, Michael Gekle
Summary: The crosstalk between renal epithelial cells and interstitial fibroblasts in the kidney plays an important role in kidney pathophysiology. Acidosis enhances the cytoprotective Nrf2 pathway in renal epithelial cells co-cultivated with renal fibroblasts, leading to increased expression of the cytoprotective TKT. This protective response is not observed in monoculture.
Article
Genetics & Heredity
Tejashree Anil More, Prabhakar S. Kedar
Summary: The study found that in the Indian population, the A858D missense mutation in the SLC4A1 gene is the most common cause of dRTA coupled with HS. HRM analysis can be used as a rapid screening method for common SLC4A1 mutations that cause AR dRTA in the Indian population.
Article
Endocrinology & Metabolism
Pankaj Singhania, Abhranil Dhar, Aditya Deshpande, Debaditya Das, Neeti Agrawal, Partha Pratim Chakraborty, Rana Bhattacharjee, Ajitesh Roy
Summary: Proximal renal tubular acidosis (pRTA) is characterized by a defect in the ability of the proximal convoluted tubule to reabsorb bicarbonate. It is often associated with Fanconi syndrome and can present with rickets in children. We report six cases of rickets and short stature due to pRTA, with one case being idiopathic and the rest having specific underlying conditions.
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
(2023)
Article
Veterinary Sciences
James C. Barton, Peter-John Mantyla Noble, Erin M. O'Connell
Summary: This article describes a unique case of profound renal tubular acidosis (RTA) with proximal and distal renal tubular dysfunction in veterinary literature. Importantly, the authors hypothesize that the transient RTA may be a manifestation of acute kidney injury secondary to acute pancreatitis.
JOURNAL OF VETERINARY EMERGENCY AND CRITICAL CARE
(2022)
Review
Biochemistry & Molecular Biology
Oana Ungureanu, Gener Ismail
Summary: Distal renal tubular acidosis (DRTA) is often associated with autoimmune diseases, but the true incidence of complete or incomplete forms is still unknown. This review summarizes data from 37 case reports published in the last five years to provide information on clinical presentation, biological alterations, treatment, and outcome. The mechanisms underlying the association between DRTA and autoimmune diseases are not fully understood and further research is needed.
Article
Health Care Sciences & Services
Maxime Ilzkovitz, Elikyah Esther Kayembe, Caroline Geers, Agnieszka Pozdzik
Summary: This study reported a rare case of kidney stone disease in an Indian woman with a strong association with Sjogren syndrome, highlighting the importance of autoimmune screening in the diagnosis of such conditions.
Article
Pediatrics
Jessica M. Forero-Delgadillo, Helena Gil-Pena, Marta Alonso-Varela, Fernando Santos
Summary: This study confirms the risk of kidney function reduction in pediatric patients with DRTA, indicating that low GFR is associated with less favorable growth outcomes and revealing the high frequency of low birth weight in primary DRTA, a previously unrecognized feature.
PEDIATRIC NEPHROLOGY
(2021)