Article
Multidisciplinary Sciences
Kunjing Gong, Min Xia, Yaqin Wang, Na Wang, Ying Liu, Victor Wei Zhang, Hong Cheng, Yuqing Chen
Summary: Genes UMOD, HNF1B, MUC1, REN, and SEC61A1 are associated with autosomal dominant tubulointerstitial kidney disease (ADTKD). A study of 48 probands and their family members revealed potential associations between genotype and outcomes, with UMOD gene cysteine substitutions showing a better prognosis. Follow-up data suggested suspected ADTKD individuals had a better prognosis compared to ADTKD individuals.
SCIENTIFIC REPORTS
(2021)
Article
Medicine, General & Internal
Ahsan Alam, Emilie Cornec-Le Gall, Ronald D. Perrone
Summary: This article describes autosomal dominant polycystic kidney disease, its signs and symptoms, diagnosis, and treatment options.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
(2023)
Article
Transplantation
Holly Mabillard, John A. Sayer, Eric Olinger
Summary: Autosomal dominant tubulointerstitial kidney disease (ADTKD) is a kidney disease characterized by tubular damage and fibrosis. Mutations in UMOD and MUC1 genes are the most common causes, but other subtypes also exist. Recent international efforts have provided critical insights into the clinical and genetic aspects of ADTKD, as well as advancements in diagnostic approaches and research on cellular pathways.
NEPHROLOGY DIALYSIS TRANSPLANTATION
(2023)
Review
Pediatrics
Anthony J. Bleyer, Matthias T. Wolf, Kendrah O. Kidd, Martina Zivna, Stanislav Kmoch
Summary: ADTKD is a group of autosomal dominant kidney diseases characterized by bland urinary sediment, slowly progressive CKD, and genetic inheritance. Advances in genetic diagnosis have increased recognition of ADTKD as a cause of CKD in both children and adults.
PEDIATRIC NEPHROLOGY
(2022)
Review
Pharmacology & Pharmacy
Guangying Shao, Shuai Zhu, Baoxue Yang
Summary: ADPKD is a common hereditary kidney disease characterized by progressively enlarged cysts that destroy renal function, potentially leading to ESRD. Herbal medicines have shown potential in inhibiting cyst development and ADPKD progression, providing new insights for clinical therapeutic strategies.
FRONTIERS IN PHARMACOLOGY
(2021)
Review
Biochemistry & Molecular Biology
Claudio Ponticelli, Gabriella Moroni, Francesco Reggiani
Summary: Autosomal-Dominant Polycystic Kidney Disease (ADPKD) is a genetic disorder caused by mutations in PKD1 or PKD2 genes. The involvement of autophagy in ADPKD remains a subject of investigation, with potential implications on cyst formation and fibrosis. Autophagy inducers have shown promising results in preclinical studies and may provide a potential avenue for future investigations.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Plant Sciences
Guo-Yi Tang, Sha Li, Yu Xu, Cheng Zhang, Xiao-Yu Xu, Lin Xu, Ning Wang, Yibin Feng
Summary: This study analyzed the bioactive compound profiles of a renal herb formula (RHF) and evaluated its protective effects against hyperuricemic nephropathy. It was found that RHF improved kidney functions and inhibited apoptosis and inflammation in kidney residential cells through targeting specific pathways. RHF and its bioactive compounds have the potential to be developed into effective drugs for the treatment and management of hyperuricemic nephropathy.
Article
Biochemistry & Molecular Biology
Panshuang Qiao, Yi Sun, Yiming Wang, Simei Lin, Yongpan An, Liang Wang, Jihan Liu, Yajun Huang, Baoxue Yang, Hong Zhou
Summary: Hyperuricemia-induced oxidative stress contributes to hyperuricemic nephropathy, and the molecular mechanisms underlying the disturbed redox homeostasis in kidneys are unclear. This study showed that NRF2, a key regulator, plays a role in improving mitochondrial homeostasis and fibrosis in renal tubular cells by reducing oxidative stress, upregulating the antioxidant signaling pathway, and downregulating the TGF-beta 1 signaling pathway. The activation of NRF2 represents a promising strategy to restore redox homeostasis and combat hyperuricemic nephropathy.
Article
Urology & Nephrology
Jose Luis Gorriz, David Arroyo, Luis D'Marco, Roser Torra, Patricia Tomas, Maria Jesus Puchades, Nayara Panizo, Jonay Pantoja, Marco Montomoli, Jose Luis Llisterri, Vicente Pallares-Carratala, Jose Manuel Valdivielso
Summary: ADPKD patients have poorer renal function, worse blood pressure control, higher parathormone levels, but lower proteinuria. They show intermediate control rates of cardiovascular risk factors, with a lower occurrence of CVE compared to other groups.
Article
Medicine, General & Internal
Li-Ling Zhang, Jia-Ru Lin, Ting-Ting Zhu, Qi Liu, Dong-Mei Zhang, Lin-Wang Gan, Ying Li, San-Tao Ou
Summary: ADTKD-UMOD is a hereditary kidney disease characterized by mutations in the UMOD gene, with early diagnosis being crucial for treatment and identification of affected family members.
WORLD JOURNAL OF CLINICAL CASES
(2021)
Article
Urology & Nephrology
Cortney N. Steele, Ester S. Oh, Wei Wang, Heather Farmer-Bailey, Berenice Y. Gitomer, Michel Chonchol, Kristen L. Nowak
Summary: Cerebrovascular dysfunction, characterized by increased brain pulsatile flow, reduced cerebrovascular reactivity, and cerebral hypoperfusion, precedes the onset of dementia and is linked to cognitive dysfunction. Patients with autosomal dominant polycystic kidney disease (ADPKD) have a higher risk of dementia and are more likely to develop intracranial aneurysms, but cerebrovascular function in ADPKD patients has not been previously characterized.
AMERICAN JOURNAL OF NEPHROLOGY
(2023)
Review
Nutrition & Dietetics
Lauren Pickel, Ioan-Andrei Iliuta, James Scholey, York Pei, Hoon-Ki Sung
Summary: Autosomal dominant polycystic kidney disease (ADPKD) is characterized by progressive growth of renal cysts and loss of functional nephrons. Evidence suggests that dietary interventions such as caloric restriction, intermittent fasting, and ketogenic diets have the potential to slow disease progression and confer metabolic benefits.
ADVANCES IN NUTRITION
(2022)
Article
Biotechnology & Applied Microbiology
Magdy Ramadan Shahein, El Sayed Hassan Atwaa, Khaled Magawry El-Zahar, Ahdab Abdo Elmaadawy, Hayfa Hussin Ali Hijazy, Mahmoud Zaky Sitohy, Ashraf Albrakati, Ehab Kotb Elmahallawy
Summary: This study investigated the potential use of watermelon seed milk in the manufacture of yoghurt. It found that yoghurt enriched with 10% watermelon seed milk showed significant improvement in renal function compared to a positive control group of hyperuricemic rats. The study concluded that watermelon seed milk can be used in yoghurt manufacturing up to a proportion of 50%, and may improve kidney function as an anti-hyperuricemic agent.
FERMENTATION-BASEL
(2022)
Review
Pediatrics
Eric G. Benz, Erum A. Hartung
Summary: ADPKD and ARPKD are characterized by bilateral cystic kidney disease with distinct liver manifestations. The clinical presentation and severity of both diseases are wider than previously recognized, and pediatric and adult nephrologists may care for individuals with these diseases in their lifetimes. Genetic, clinical, and imaging predictors can help forecast disease progression, and pharmacologic therapies are available to prevent progression.
PEDIATRIC NEPHROLOGY
(2021)
Review
Biochemistry & Molecular Biology
L. Lucchetti, M. Chinali, F. Emma, L. Massella
Summary: Autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD) are the most common cystic kidney diseases, with significant differences in genetics and clinical manifestations. Hypertension is a main symptom in both diseases, but the age of onset and secondary cardiovascular complications differ. Systematic screening and monitoring of hypertension and secondary cardiovascular damage in childhood can help manage the disease early and limit the burden in adulthood.
FRONTIERS IN MOLECULAR BIOSCIENCES
(2023)