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https://www.readbyqxmd.com/read/28819721/inherited-not-acquired-gitelman-syndrome-in-a-patient-with-sj%C3%A3-gren-s-syndrome-importance-of-genetic-testing-to-distinguish-the-two-forms
#1
Eikan Mishima, Takayasu Mori, Eisei Sohara, Shinichi Uchida, Takaaki Abe, Sadayoshi Ito
Gitelman syndrome (GS) is an autosomal recessive, salt-losing renal tubulopathy caused by mutations in the SLC12A3 gene; however, it can also be acquired in patients with autoimmune disease, especially in those with Sjögren's syndrome. Differentiating between the inherited and acquired forms of GS is clinically difficult. We report a case of inherited, not acquired, GS in a patient with Sjögren's syndrome. A 41-year-old woman, who had been diagnosed with Sjögren's syndrome at 27-years-old, had shown chronic hypokalemia (2...
August 17, 2017: CEN Case Reports
https://www.readbyqxmd.com/read/28815356/dent-disease-in-poland-what-we-have-learned-so-far
#2
Marcin Zaniew, Małgorzata Mizerska-Wasiak, Iga Załuska-Leśniewska, Piotr Adamczyk, Katarzyna Kiliś-Pstrusińska, Adam Haliński, Jan Zawadzki, Beata S Lipska-Ziętkiewicz, Krzysztof Pawlaczyk, Przemysław Sikora, Michael Ludwig, Maria Szczepańska
PURPOSE: Dent disease (DD) is a rare tubulopathy characterized by proximal tubular dysfunction leading to chronic kidney disease (CKD). The aim of the study was to characterize patients with DD in Poland. METHODS: A retrospective analysis of a national cohort with genetically confirmed diagnosis. RESULTS: Of 24 males, all patients except one carried mutations in the CLCN5 gene; in one patient a mutation in the OCRL gene was disclosed. Molecular diagnosis was delayed 1 year on average (range 0-21 years)...
August 16, 2017: International Urology and Nephrology
https://www.readbyqxmd.com/read/28755188/liver-cancer-in-tyrosinemia-type-1
#3
Willem G van Ginkel, Jan P Pennings, Francjan J van Spronsen
Hereditary Tyrosinemia type I (HT1) is clinically mainly characterised by severe liver disease. Most patients present in their first months of life with liver failure, but others can present later with issues of compensated cirrhosis, renal tubulopathy or acute intermittent porphyria. If patients survive the acute phase with liver failure or if they present later with compensated cirrhosis, they often develop hepatocellular carcinoma early but also later in life. The course of the disease changed after the introduction of 2-(2 nitro-4-3 trifluoro-methylbenzoyl)-1, 3-cyclohexanedione (NTBC), which blocks the tyrosine degradation pathway at an earlier step...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28752220/a-patient-with-mitochondrial-disorder-due-to-a-novel-mutation-in-mrps22
#4
Mustafa Kılıç, Kader-Karli Oğuz, Esra Kılıç, Deniz Yüksel, Hüseyin Demirci, Mahmut Şamil Sağıroğlu, Didem Yücel-Yılmaz, Rıza Köksal Özgül
MRPS22 gene defect is a very rare newly discovered mitochondrial disorder. We report a 4-month-old severely affected male infant with MRPS22 mutation. Whole exome sequencing revealed a novel homozygous splicing mutation c.339 + 5 G > A in MRPS22 gene. He has mild dysmorphism, hypotonia, developmental delay but not hypertrophic cardiomyopathy and tubulopathy which differ from other majority of reported patients. Therefore, hypertrophic cardiomyopathy and tubulopathy may not be considered as constant features of MRPS22...
July 27, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28739329/peptide-receptor-radionuclide-therapy-induced-gitelman-like-syndrome
#5
Aurelio Negro, Giovanni M Rossi, Davide Nicoli, Annibale Versari, Enrico Farnetti, Rosaria Santi, Stefano De Pietri
Peptide receptor radionuclide therapy (PRRT) is a molecular-targeted therapy in which a somatostatin analogue (a small peptide) is coupled with a radioligand so that the radiation dose is selectively administered to somatostatin receptor-expressing metastasized neuroendocrine tumors, particularly gastroenteropancreatic. Reported toxicities include myelotoxicity and nephrotoxicity, the latter manifesting as decreased kidney function, often developing months to years after treatment completion. We present a case of PRRT-induced kidney toxicity manifesting as a severe Gitelman-like tubulopathy with preserved kidney function...
July 21, 2017: American Journal of Kidney Diseases: the Official Journal of the National Kidney Foundation
https://www.readbyqxmd.com/read/28736435/extracellular-vesicles-in-renal-disease
#6
REVIEW
Diana Karpman, Anne-Lie Ståhl, Ida Arvidsson
Extracellular vesicles, such as exosomes and microvesicles, are host cell-derived packages of information that allow cell-cell communication and enable cells to rid themselves of unwanted substances. The release and uptake of extracellular vesicles has important physiological functions and may also contribute to the development and propagation of inflammatory, vascular, malignant, infectious and neurodegenerative diseases. This Review describes the different types of extracellular vesicles, how they are detected and the mechanisms by which they communicate with cells and transfer information...
September 2017: Nature Reviews. Nephrology
https://www.readbyqxmd.com/read/28700713/increased-urinary-prostaglandin-e2-metabolite-a-potential-therapeutic-target-of-gitelman-syndrome
#7
Xiaoyan Peng, Lanping Jiang, Chen Chen, Yan Qin, Tao Yuan, Ou Wang, Xiaoping Xing, Xuemei Li, Min Nie, Limeng Chen
BACKGROUND: Gitelman syndrome (GS), an inherited autosomal recessive salt-losing renal tubulopathy caused by mutations in SLC12A3 gene, has been associated with normal prostaglandin E2 (PGE2) levels since 1995 by a study involving 11 clinically diagnosed patients. However, it is difficult to explain why cyclooxygenase-2 (COX2) inhibitors, which pharmacologically reduce PGE2 synthesis, are helpful to patients with GS, and few studies performed in the last 20 years have measured PGE2 levels...
2017: PloS One
https://www.readbyqxmd.com/read/28696246/farnesoid-x-receptor-agonism-protects-against-diabetic-tubulopathy-potential-add-on-therapy-for-diabetic-nephropathy
#8
Andi Marquardt, Moh'd Mohanad Al-Dabet, Sanchita Ghosh, Shrey Kohli, Jayakumar Manoharan, Ahmed ElWakiel, Ihsan Gadi, Fabian Bock, Sumra Nazir, Hongjie Wang, Jonathan A Lindquist, Peter Paul Nawroth, Thati Madhusudhan, Peter R Mertens, Khurrum Shahzad, Berend Isermann
Established therapies for diabetic nephropathy (dNP) delay but do not prevent its progression. The shortage of established therapies may reflect the inability to target the tubular compartment. The chemical chaperone tauroursodeoxycholic acid (TUDCA) ameliorates maladaptive endoplasmic reticulum (ER) stress signaling and experimental dNP. Additionally, TUDCA activates the farnesoid X receptor (FXR), which is highly expressed in tubular cells. We hypothesized that TUDCA ameliorates maladaptive ER signaling via FXR agonism specifically in tubular cells...
July 10, 2017: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/28674042/a-novel-hypokalemic-alkalotic-salt-losing-tubulopathy-in-patients-with-cldn10-mutations
#9
Ernie M H F Bongers, Luke M Shelton, Susanne Milatz, Sjoerd Verkaart, Anneke P Bech, Jeroen Schoots, Elisabeth A M Cornelissen, Markus Bleich, Joost G J Hoenderop, Jack F M Wetzels, Dorien Lugtenberg, Tom Nijenhuis
Mice lacking distal tubular expression of CLDN10, the gene encoding the tight junction protein Claudin-10, show enhanced paracellular magnesium and calcium permeability and reduced sodium permeability in the thick ascending limb (TAL), leading to a urine concentrating defect. However, the function of renal Claudin-10 in humans remains undetermined. We identified and characterized CLDN10 mutations in two patients with a hypokalemic-alkalotic salt-losing nephropathy. The first patient was diagnosed with Bartter syndrome (BS) >30 years ago...
July 3, 2017: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/28612263/tight-metabolic-control-plus-ace-inhibitor-therapy-improves-gsd-i-nephropathy
#10
Gyongyi O Okechuku, Lawrence R Shoemaker, Monika Dambska, Laurie M Brown, Justin Mathew, David A Weinstein
The onset of microalbuminuria (MA) heralds the onset of glomerulopathy in patients with glycogen storage disease (GSD) type I. Unlike tubulopathy, which responds to improved metabolic control, glomerulopathy in GSD I is considered refractory to medical intervention, and it is thought to inexorably progress to overt proteinuria and renal failure. Recent reports of reduced microalbuminuria following strict adherence to therapy counter this view. In contrast to type Ia, little is known regarding the prevalence of kidney disease in GSD Ib, 0, III, VI, and IX...
June 13, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28591989/-clinicopathologic-characteristics-of-light-chain-proximal-tubulopathy
#11
X Zhang, K Niu, J Xu, M Cheng, H Wang, Y L Ren, L J Chai, S X Wang
No abstract text is available yet for this article.
June 8, 2017: Zhonghua Bing Li Xue za Zhi Chinese Journal of Pathology
https://www.readbyqxmd.com/read/28545410/combined-proximal-tubulopathy-crystal-storing-histiocytosis-and-cast-nephropathy-in-a-patient-with-light-chain-multiple-myeloma
#12
Chung-Kuan Wu, An-Hang Yang, Hung-Chih Lai, Bing-Shi Lin
BACKGROUND: The diagnosis of myeloma, a plasma dyscrasia, often results from the workup of unexplained renal disease. Persistent renal failure in myeloma is commonly caused by tubular nephropathy due to circulating immunoglobulins and free light chains. Myeloma cast nephropathy is characterized by crystalline precipitates of monoclonal light chains within distal tubules. Immunoglobulin crystallization rarely occurs intracellularly, within proximal tubular cells (light chain proximal tubulopathy) and interstitial histiocytes (crystal-storing histiocytosis)...
May 25, 2017: BMC Nephrology
https://www.readbyqxmd.com/read/28520146/association-of-tenofovir-disoproxil-fumarate-with-primary-allograft-survival-in-hiv-positive-kidney-transplant-recipients
#13
Suzanne M Boyle, Gregory Malat, Meera N Harhay, Dong H Lee, Lisa Pang, Sindhura Talluri, Akshay Sharma, Tiffany E Bias, Karthik Ranganna, Alden M Doyle
BACKGROUND: Tenofovir disoproxil fumarate (TDF) is an antiretroviral agent frequently used to treat human immunodeficiency virus (HIV). There are concerns regarding its potential to cause acute kidney injury, chronic kidney disease, and proximal tubulopathy. Although TDF can effectively suppress HIV after kidney transplantation, it is unknown whether use of TDF-based antiretroviral therapy (ART) after kidney transplantation adversely affects allograft survival. METHODS: We examined 104 HIV+ kidney transplant (KT) recipients at our center between 2001 and 2014...
August 2017: Transplant Infectious Disease: An Official Journal of the Transplantation Society
https://www.readbyqxmd.com/read/28458902/hyperinsulinaemic-hypoglycaemia-renal-fanconi-syndrome-and-liver-disease-due-to-a-mutation-in-the-hnf4a-gene
#14
María Clemente, Alejandro Vargas, Gema Ariceta, Rosa Martínez, Ariadna Campos, Diego Yeste
SUMMARY: HNF4A gene mutations have been reported in cases of transient and persistent hyperinsulinaemic hypoglycaemia of infancy (HHI), particularly in families with adulthood diabetes. The case of a patient with HHI, liver impairment and renal tubulopathy due to a mutation in HNF4A is reported. LEARNING POINTS: Urine specimen study in cases of HHI with diazoxide response is necessary to rule out specific metabolic conditions (l-3-hydroxyacyl-coenzyme A dehydrogenase deficiency) or tubular renal involvement...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/28446151/novel-mutation-in-the-slc12a3-gene-in-a-sri-lankan-family-with-gitelman-syndrome-coexistent-diabetes-a-case-report
#15
Chandrika Jayakanthi Subasinghe, Nirmala Dushyanthi Sirisena, Chula Herath, Knut Erik Berge, Trond Paul Leren, Uditha Bulugahapitiya, Vajira Harshadeva Weerabaddana Dissanayake
BACKGROUND: Gitelman syndrome (GS) is a rare autosomal recessively inherited salt-wasting tubulopathy associated with mutations in the SLC12A3 gene, which encodes for NaCl cotransporter (NCC) in the kidney. CASE PRESENTATION: In this report, we describe two siblings from a Sri Lankan non-consanguineous family presenting with hypokalaemia associated with renal potassium wasting, hypomagnesemia, hypocalciuria and hypereninemic hyperaldosteronism with normal blood pressure...
April 26, 2017: BMC Nephrology
https://www.readbyqxmd.com/read/28409163/pgc1%C3%AE-activators-mitigate-diabetic-tubulopathy-by-improving-mitochondrial-dynamics-and-quality-control
#16
So-Young Lee, Jun Mo Kang, Dong-Jin Kim, Seon Hwa Park, Hye Yun Jeong, Yu Ho Lee, Yang Gyun Kim, Dong Ho Yang, Sang Ho Lee
Purpose. In this study, we investigated the effect of PGC1α activators on mitochondrial fusion, fission, and autophagic quality control in renal tubular cells in a diabetic environment in vivo and in vitro. We also examined whether the upregulation of PGC1α attenuates diabetic tubulopathy by normalizing mitochondrial homeostasis. Methods. HKC8 cells were subjected to high-glucose conditions (30 mM D-glucose). Diabetes was induced with streptozotocin (STZ, 50 mg/kg i.p. for 5 days) in male C57/BL6J mice...
2017: Journal of Diabetes Research
https://www.readbyqxmd.com/read/28397817/tenofovir-and-adefovir-down-regulate-mitochondrial-chaperone-trap1-and-succinate-dehydrogenase-subunit-b-to-metabolically-reprogram-glucose-metabolism-and-induce-nephrotoxicity
#17
Xinbin Zhao, Kun Sun, Zhou Lan, Wenxin Song, Lili Cheng, Wenna Chi, Jing Chen, Yi Huo, Lina Xu, Xiaohui Liu, Haiteng Deng, Julie A Siegenthaler, Ligong Chen
Despite the therapeutic success of tenofovir (TFV) for treatment of HIV-1 infection, numerous cases of nephrotoxicity have been reported. Mitochondrial toxicity has been purported as the major target of TFV-associated renal tubulopathy but the underlying molecular mechanism remains unclear. In this report, we use metabolomics and proteomics with HK-2 cells and animal models to dissect the molecular pathways underlying nephropathy caused by TFV and its more toxic analog, adefovir (ADV). Proteomic analysis shows that mitochondrial chaperone TRAP1 and mtDNA replicating protein SSBP1 were significantly down-regulated in TFV and ADV treated HK-2 cells compared with controls...
April 11, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28381550/clinical-and-genetic-spectrum-of-bartter-syndrome-type-3
#18
Elsa Seys, Olga Andrini, Mathilde Keck, Lamisse Mansour-Hendili, Pierre-Yves Courand, Christophe Simian, Georges Deschenes, Theresa Kwon, Aurélia Bertholet-Thomas, Guillaume Bobrie, Jean Sébastien Borde, Guylhène Bourdat-Michel, Stéphane Decramer, Mathilde Cailliez, Pauline Krug, Paul Cozette, Jean Daniel Delbet, Laurence Dubourg, Dominique Chaveau, Marc Fila, Noémie Jourde-Chiche, Bertrand Knebelmann, Marie-Pierre Lavocat, Sandrine Lemoine, Djamal Djeddi, Brigitte Llanas, Ferielle Louillet, Elodie Merieau, Maria Mileva, Luisa Mota-Vieira, Christiane Mousson, François Nobili, Robert Novo, Gwenaëlle Roussey-Kesler, Isabelle Vrillon, Stephen B Walsh, Jacques Teulon, Anne Blanchard, Rosa Vargas-Poussou
Bartter syndrome type 3 is a clinically heterogeneous hereditary salt-losing tubulopathy caused by mutations of the chloride voltage-gated channel Kb gene (CLCNKB), which encodes the ClC-Kb chloride channel involved in NaCl reabsorption in the renal tubule. To study phenotype/genotype correlations, we performed genetic analyses by direct sequencing and multiplex ligation-dependent probe amplification and retrospectively analyzed medical charts for 115 patients with CLCNKB mutations. Functional analyses were performed in Xenopus laevis oocytes for eight missense and two nonsense mutations...
August 2017: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/28377333/prenatal-diagnosis-of-bartter-syndrome-amniotic-fluid-aldosterone
#19
Myriam Rachid, Sophie Dreux, Gauthier Pean de Ponfilly, Rosa Vargas-Poussou, Isabelle Czerkiewicz, Didier Chevenne, Jean-François Oury, Georges Deschênes, Françoise Muller
Bartter syndrome is a severe inherited tubulopathy characterized at birth by salt wasting, severe polyuria, dehydration, growth retardation and secondary hyperaldosteronism. Prenatally, the disease is usually discovered following onset of severe polyhydramnios. We studied amniotic fluid aldosterone concentration in cases of Bartter syndrome and in control groups. Amniotic fluid aldosterone was assayed by radioimmunoassay. We undertook a retrospective case-control study based on 36 cases of postnatally diagnosed Bartter syndrome and 144 controls matched for gestational age...
April 1, 2017: Annales de Biologie Clinique
https://www.readbyqxmd.com/read/28325740/proximal-tubulopathy-prime-mover-and-key-therapeutic-target-in-diabetic-kidney-disease
#20
REVIEW
Richard E Gilbert
The current view of diabetic kidney disease, based on meticulously acquired ultrastructural morphometry and the utility of measuring plasma creatinine and urinary albumin, has been almost entirely focused on the glomerulus. While clearly of great importance, changes in the glomerulus are not the major determinant of renal prognosis in diabetes and may not be the primary event in the development of diabetic kidney disease either. Indeed, advances in biomarker discovery and a greater appreciation of tubulointerstitial histopathology and the role of tubular hypoxia in the pathogenesis of chronic kidney disease have given us pause to reconsider the current "glomerulocentric" paradigm and focus attention on the proximal tubule that by virtue of the high energy requirements and reliance on aerobic metabolism render it particularly susceptible to the derangements of the diabetic state...
April 2017: Diabetes
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