Review
Urology & Nephrology
Yeji Ham, Heather Mack, Deb Colville, Philip Harraka, Judy Savige
Summary: Gitelman syndrome is a rare genetic disorder characterized by hypokalemia, hypomagnesemia, and low blood pressure. Diagnosis is often missed but can be indicated by ectopic calcification in the eyes. Treatment involves correcting potassium and magnesium levels to prevent complications.
CLINICAL KIDNEY JOURNAL
(2021)
Article
Urology & Nephrology
Daan Viering, Karl P. Schlingmann, Marguerite Hureaux, Tom Nijenhuis, Andrew Mallett, Melanie M. Y. Chan, Andre van Beek, Albertien M. van Eerde, Jean-Marie Coulibaly, Marion Vallet, Stephane Decramer, Solenne Pelletier, Gunter Klaus, Martin Komhoff, Rolf Beetz, Chirag Patel, Mohan Shenoy, Eric J. Steenbergen, Glenn Anderson, Ernie M. H. F. Bongers, Carsten Bergmann, Daan Panneman, Richard J. Rodenburg, Robert Kleta, Pascal Houillier, Martin Konrad, Rosa Vargas-Poussou, Nine V. A. M. Knoers, Detlef Bockenhauer, Jeroen H. F. de Baaij
Summary: This study found that mitochondrial DNA variants in the MT-TF and MT-TI genes can cause symptoms similar to Gitelman syndrome. Genetic investigation of mitochondrial DNA should be considered in patients with unexplained Gitelman syndrome-like tubulopathies.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
(2022)
Article
Biochemistry & Molecular Biology
Dalal Bakhos-Douaihy, Elie Seaayfan, Sylvie Demaretz, Martin Komhoff, Kamel Laghmani
Summary: The chaperone stress 70 protein (STCH) and the stress-inducible heat shock protein 70 (Hsp70) were identified as novel binding partners of NKCC2. They have differential and antagonistic effects on NKCC2 biogenesis.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Medicine, General & Internal
Yishu Liu, Hongling Chu, Ke Peng, Xuejun Yin, Liping Huang, Yangfeng Wu, Sallie-Anne Pearson, Nicole Li, Paul Elliott, Lijing L. Yan, Darwin R. Labarthe, Zhixin Hao, Xiangxian Feng, Jianxin Zhang, Yuhong Zhang, Ruijuan Zhang, Bo Zhou, Zhifang Li, Jixin Sun, Yi Zhao, Yan Yu, Maoyi Tian, Bruce Neal, Hueiming Liu
Summary: Lowering sodium intake is essential for reducing blood pressure and cardiovascular disease risk. The use of salt substitutes in rural China faces challenges due to a lack of understanding of sodium reduction and salt substitutes, as well as habitual consumption of high-sodium foods.
Article
Medicine, General & Internal
B. Neal, Y. Wu, X. Feng, R. Zhang, Y. Zhang, J. Shi, J. Zhang, M. Tian, L. Huang, Z. Li, Y. Yu, Y. Zhao, B. Zhou, J. Sun, Y. Liu, X. Yin, Z. Hao, J. Yu, K. -C. Li, X. Zhang, P. Duan, F. Wang, B. Ma, W. Shi, G. L. Di Tanna, S. Stepien, S. Shan, S. -A. Pearson, N. Li, L. L. Yan, D. Labarthe, P. Elliott
Summary: The study found that among individuals with a history of stroke or aged 60 or older with high blood pressure, using a salt substitute can reduce the rates of stroke, major cardiovascular events, and death.
NEW ENGLAND JOURNAL OF MEDICINE
(2021)
Article
Biochemistry & Molecular Biology
Viviana Palazzo, Valentina Raglianti, Samuela Landini, Luigi Cirillo, Carmela Errichiello, Elisa Buti, Rosangela Artuso, Lucia Tiberi, Debora Vergani, Elia Dirupo, Paola Romagnani, Benedetta Mazzinghi, Francesca Becherucci
Summary: This study assessed the diagnostic rate of whole-exome sequencing (WES) in Bartter and Gitelman syndromes and explored genotype-phenotype correlations. The findings improve the understanding of differential diagnosis and genotype-phenotype correlation in these disorders.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Review
Biochemistry & Molecular Biology
Laura Nunez-Gonzalez, Noa Carrera, Miguel A. Garcia-Gonzalez
Summary: Gitelman and Bartter syndromes are rare inherited diseases that result in electrolyte imbalances, especially in the nephron. Both syndromes share many similar clinical symptoms and the main treatment involves electrolyte supplementation and dietary changes.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Transplantation
Maartje F. A. Verploegen, Rosa Vargas-Poussou, Stephen B. Walsh, Harika Alpay, Atefeh Amouzegar, Gema Ariceta, Bahriye Atmis, Justine Bacchetta, Peter Barany, Stephanie Baron, Umut Selda Bayrakci, Hendrica Belge, Martine Besouw, Anne Blanchard, Arend Bokenkamp, Olivia Boyer, Kathrin Burgmaier, Lorenzo A. Calo, Stephane Decramer, Olivier Devuyst, Maria van Dyck, Pietro Manuel Ferraro, Marc Fila, Telma Francisco, Gian Marco Ghiggeri, Leire Gondra, Stefano Guarino, Nakysa Hooman, Ewout J. Hoorn, Pascal Houillier, Konstantinos Kamperis, Jameela A. Kari, Martin Konrad, Elena Levtchenko, Laura Lucchetti, Francesca Lugani, Pierluigi Marzuillo, Barian Mohidin, Thomas J. Neuhaus, Abdaldafae Osman, Svetlana Papizh, Manel Perello, Maarten B. Rookmaaker, Valerie Said Conti, Fernando Santos, Ghalia Sawaf, Erkin Serdaroglu, Maria Szczepanska, Francesca Taroni, Rezan Topaloglu, Francesco Trepiccione, Enrico Vidal, Elizabeth R. Wan, Lutz Weber, Zeynep Yuruk Yildirim, Selcuk Yuksel, Galia Zlatanova, Detlef Bockenhauer, Francesco Emma, Tom Nijenhuis
Summary: This study evaluated PTH and phosphate homeostasis in a large cohort of patients with salt-losing tubulopathies. The results showed that hyperparathyroidism is frequent in patients with Bartter syndrome type I and II, while low serum phosphate is observed in a significant number of patients with Bartter and Gitelman syndrome and appears to be associated with renal phosphate wasting.
NEPHROLOGY DIALYSIS TRANSPLANTATION
(2022)
Article
Peripheral Vascular Disease
Abu Mohd Naser, Feng J. He, Mahbubur Rahman, Norm R. C. Campbell
Summary: The study evaluated the relationship between estimated 24-hour urinary sodium excretion from different formulas and blood pressure, finding discrepancies between formula-estimated sodium levels and actual measurements. The formulas resulted in overestimation of sodium at lower levels and underestimation at higher levels, impacting the relationship with blood pressure.
Review
Nutrition & Dietetics
Shinsuke Yamada, Masaaki Inaba
Summary: Potassium is the main intracellular cation that plays a vital role in maintaining cellular functions. Kidney function is crucial in regulating serum potassium levels, and tailored potassium management is necessary for individuals with impaired renal function. Abnormalities in potassium metabolism can lead to dangerous arrhythmias or sudden cardiac death, emphasizing the importance of monitoring and early intervention for high-risk patients.
Article
Peripheral Vascular Disease
Matti Marklund, Fikru Tullu, Sudhir Raj Thout, Jie Yu, Tammy M. Brady, Lawrence J. Appel, Bruce Neal, Jason H. Y. Wu, Rachita Gupta
Summary: Modeling nationwide salt substitution in India consistently estimated substantial net benefits, preventing around 8% to 14% of annual cardiovascular deaths. Even allowing for potential hyperkalemia risks there were net benefits estimated for individuals with chronic kidney disease.
Article
Nutrition & Dietetics
Jie Yu, Sudhir Raj Thout, Qiang Li, Maoyi Tian, Matti Marklund, Clare Arnott, Mark D. Huffman, Devarsetty Praveen, Claire Johnson, Liping Huang, Simone Pettigrew, Bruce Neal, Jason H. Y. Wu
Summary: The study showed that using reduced-sodium added-potassium salt substitute can effectively lower blood pressure in hypertensive patients in rural India. Participants reported high satisfaction with the study salt and rated its taste positively.
AMERICAN JOURNAL OF CLINICAL NUTRITION
(2021)
Article
Cell Biology
Sylvie Demaretz, Elie Seaayfan, Dalal Bakhos-Douaihy, Nadia Frachon, Martin Komhoff, Kamel Laghmani
Summary: The study identifies Golgi alpha1, 2-mannosidase IA (ManIA) as a novel binding partner of immature NKCC2 and suggests that ManIA plays an important role in the maturation of NKCC2 by promoting the retention and degradation of misfolded proteins, contributing to the ER-associated degradation (ERAD) of NKCC2.
Article
Peripheral Vascular Disease
Takashi Hisamatsu, Donald M. Lloyd-Jones, Laura A. Colangelo, Kiang Liu
Summary: The study revealed that individuals with high sodium and low potassium intake experienced significant increases in blood pressure levels and were at higher risk of developing hypertension during the follow-up period. The findings emphasize the importance of reducing sodium intake and increasing potassium intake for hypertension prevention among young adults.
JOURNAL OF HYPERTENSION
(2021)
Article
Peripheral Vascular Disease
Xuejun Yin, Ellie Paige, Maoyi Tian, Qiang Li, Liping Huang, Jie Yu, Anthony Rodgers, Paul Elliott, Yangfeng Wu, Bruce Neal
Summary: The SSaSS study found that potassium-enriched salt can have definitive effects on cardiovascular outcomes and death. By quantifying the amount of potassium-enriched salt used, researchers were able to estimate the impact on risk reduction and the potential for population-wide scale-up. The results showed that even a partial replacement of regular salt with potassium-enriched salt can deliver significant health gains.