Article
Urology & Nephrology
Nicole Nourie, Hussein Nassereddine, Hiba Azar
Summary: APRT deficiency is a rare disorder caused by an autosomal recessive genetic disease leading to the deposition of 2,8-DHA in the kidney, often diagnosed in late stages of renal insufficiency. This case report presents a Middle Eastern male patient diagnosed with 2,8-DHA nephropathy secondary to a specific APRT gene variant, shared with 4 other patients from the same region. Treatment initiation effectively slowed down disease progression towards kidney replacement therapies.
Review
Medicine, General & Internal
Yamei Cheng, Luying Guo, Meifang Wang, Jianghua Chen, Rending Wang
Summary: This case report highlights a kidney transplant patient who experienced recurrent obstructive nephropathy post-transplantation, later identified by gene testing as having APRT deficiency. Treatment with allopurinol resulted in progressive improvement of allograft function. Additionally, 20 cases of APRT deficiency in renal transplant recipients were reviewed, emphasizing the importance of early recognition and treatment to avoid misdiagnosis or delayed diagnosis.
Article
Immunology
Dita Maixnerova, Petra Hruba, Michaela Neprasova, Kamila Bednarova, Janka Slatinska, Miloslav Suchanek, Marek Kollar, Jan Novak, Vladimir Tesar, Ondrej Viklicky
Summary: This study evaluated clinical parameters and histological findings of 313 IgAN patients, identifying risk factors affecting the course of IgAN after kidney transplantation, such as histological recurrence of IgAN, antibody-mediated rejection, and the onset of microscopic hematuria and proteinuria within 1 year after kidney transplant. These factors were associated with worse graft survival.
FRONTIERS IN IMMUNOLOGY
(2021)
Article
Urology & Nephrology
Miyoko Kunou, Makoto Yamaguchi, Hirotake Takahashi, Yukihiro Kimura, Naoki Watanabe, Mayumi Ito, Hirokazu Sugiyama, Shiho Iwagaitsu, Hironobu Nobata, Hiroshi Kinashi, Takayuki Katsuno, Shogo Banno, Yasuhiko Ito, Takuji Ishimoto
Summary: Adenine phosphoribosyltransferase (APRT) deficiency, a rare genetic disorder, causes the accumulation of poorly soluble 2,8-dihydroxyadenine (DHA) in the kidneys, leading to various renal problems such as nephrolithiasis, acute kidney injury, and chronic kidney disease (CKD) due to crystal nephropathy. We present a case of a 43-year-old man with 2,8-DHA crystalline nephropathy caused by APRT deficiency, diagnosed definitively by urine gas chromatography-mass spectrometry (GC/MS)-based plasma metabolomics. This case highlights the importance of recognizing the signs, symptoms, and progression of this rare condition to CKD, which can be prevented by early administration of xanthine oxidoreductase inhibitors.
Article
Geriatrics & Gerontology
Su Woong Jung, Dong Jin Kim, Yang Gyun Kim, Ju-Young Moon, Kyung Hwan Jeong, Sang-Ho Lee
Summary: Comparing natural aging and adenine-induced nephropathy in mice revealed upregulated immune system activation and inflammation, though manifested differently. Aging kidneys showed more extensive tubular injury and fibrosis, with a stronger response to injury stimulus.
JOURNALS OF GERONTOLOGY SERIES A-BIOLOGICAL SCIENCES AND MEDICAL SCIENCES
(2021)
Article
Biochemistry & Molecular Biology
Julia Moellmann, Katja Krueger, Dickson W. L. Wong, Barbara M. Klinkhammer, Eva M. Buhl, Jonas Dehairs, Johan V. Swinnen, Heidi Noels, Joachim Jankowski, Corinna Lebherz, Peter Boor, Nikolaus Marx, Michael Lehrke
Summary: In mice, 2,8-dihydroxyadenine-induced chronic kidney disease (CKD) leads to renal activation of mTOR downstream signaling, endoplasmic reticulum stress, tubular injury, fibrosis, inflammation, oxidative stress, and impaired kidney mitochondrial function, accompanied by renal hexosylceramide accumulation.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
(2024)
Article
Infectious Diseases
Reena Lamichhane-Khadka, Santosh Dulal, Jesus A. Cuaron, Richard Pfeltz, Sushim Kumar Gupta, Brian J. Wilkinson, John E. Gustafson
Summary: Comparative genomic sequencing of two laboratory-derived vancomycin-intermediate Staphylococcus aureus (VISA) strains (MM66-3 and MM66-4) revealed unique mutations compared to the parent strain MM66. Transcriptional profiling showed similar changes in both VISA strains, including reduced autolysis, growth in the presence of salt, and virulence factor activity. Mutations in the key gene apt may play a role in altered adenine metabolism in VISA strains.
Review
Endocrinology & Metabolism
Takashi Kadowaki, Hiroshi Maegawa, Hirotaka Watada, Daisuke Yabe, Koichi Node, Toyoaki Murohara, Jun Wada
Summary: There is a interaction between metabolic disorders, cardiovascular disease, and kidney dysfunction, known as cardio-renal-metabolic (CRM) disease. Understanding the molecular mechanisms and pathophysiological processes of CRM disease is crucial for improving patient outcomes, and there may be differences in CRM diseases between different regions.
DIABETES OBESITY & METABOLISM
(2022)
Review
Biochemistry & Molecular Biology
Edoardo Gronda, Alberto Palazzuoli, Massimo Iacoviello, Manuela Benevenuto, Domenico Gabrielli, Arduino Arduini
Summary: The kidneys and heart have different physiological roles in maintaining the body's circulation. The heart can rapidly adjust its oxygen consumption to meet the metabolic demands of the body, while the kidneys are primarily responsible for maintaining a stable metabolic rate and have limited capacity to cope with sudden increases in renal metabolism.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Nutrition & Dietetics
Xoana Barros, Xenia Friesen, Vincent Mathias Brandenburg, Elisa Anamaria Liehn, Sonja Steppan, Fabian Kiessling, Rafael Kramann, Juergen Floege, Thilo Krueger, Nadine Kaesler
Summary: Cardiovascular complications are a major cause of death in patients with chronic kidney disease (CKD). Magnesium deficiency is common in CKD. A study on Wistar rats with CKD found that oral magnesium carbonate supplementation restored impaired left ventricular cardiac function and improved aortic wall integrity. This study provides evidence for the beneficial effect of magnesium on cardiovascular function in CKD.
Review
Pharmacology & Pharmacy
Yumeng Zhu, Ping Xu, Xuan Huang, Wen Shuai, Li Liu, Shuai Zhang, Rui Zhao, Xiuying Hu, Guan Wang
Summary: Nicotinamide phosphoribosyltransferase (NAMPT) plays a significant role in mammals by synthesizing nicotinamide mononucleotide (NMN) for metabolic homeostasis and cell survival, serving as a key protein in the host's defense mechanism. Neurodegenerative diseases pose a serious threat to human health, but effective drugs are limited. NAMPT has active biological functions in neurogenesis, making it a powerful therapeutic target for neurodegenerative diseases.
FRONTIERS IN PHARMACOLOGY
(2022)
Article
Multidisciplinary Sciences
San Wang, Jieun Han, Se Young Jung, Tae Jung Oh, Sen Yao, Sanghee Lim, Hee Hwang, Ho-Young Lee, Haeun Lee
Summary: This study developed a machine learning model to predict the development of end-stage renal disease in patients with type 2 diabetes. The model outperformed other models and identified important features such as blood and urine markers, comorbidity index, and insulin medication days. The algorithm was successfully implemented in an electronic medical records system.
SCIENTIFIC REPORTS
(2022)
Review
Medicine, General & Internal
Wan-Chuan Tsai, Shih-Ping Hsu, Yen-Ling Chiu, Ju-Yeh Yang, Mei-Fen Pai, Mei-Ju Ko, Yu-Kang Tu, Kuan-Yu Hung, Kuo-Liong Chien, Yu-Sen Peng, Hon-Yen Wu
Summary: This study assessed the cardiovascular and renal efficacy and safety of SGLT2 inhibitors in patients without diabetes. The results showed that SGLT2 inhibitors had favorable effects on cardiovascular and renal outcomes, but increased the risk of urinary tract and genital infections in these patients.
Article
Medicine, General & Internal
Adeladlew Kassie Netere, Esmael Ali Muhammad, Mezgebu Silamsaw Asres, Masho Tigabie Teklie
Summary: The study aimed to compare renal functions in patients with diabetes treated with ACE inhibitors and either thiazide diuretics or calcium channel blockers in Northwestern Ethiopia. It found that patients on CCBs had significantly lower risks of renal events compared to HCT users.
Article
Biochemistry & Molecular Biology
Melika Ameli Mojarad, Mandana Ameli Mojarad, Alireza Pourmahdian
Summary: The study demonstrated that miR-26b can suppress the growth of breast cancer cells by downregulating NAMPT expression, NAD concentration, and cell viability, suggesting that miR-26b could be a promising target for breast cancer treatment.
DNA AND CELL BIOLOGY
(2022)