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Renal tubulopathy

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https://www.readbyqxmd.com/read/27906863/bartter-s-and-gitelman-s-syndrome
#1
Hannsjörg W Seyberth, Stefanie Weber, Martin Kömhoff
PURPOSE OF REVIEW: The clinical presentations of Bartter's syndrome and Gitelman's syndrome will be reviewed including two most recently described hypokalemic salt-losing tubulopathies. By taking the quite heterogeneous presentations and the apparently different pathophysiologies as the basis, the applicability of the physiologic classification has been tested. RECENT FINDINGS: According to the physiologic approach, salt-losing tubulopathies can be divided into two major groups (with completely different tubular defects): first, disorders of the thick ascending limb of Henle's loop (loop disorders); second, disorders of the distal convolute tubule (DCT disorders)...
November 30, 2016: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/27790796/functional-characterization-and-rescue-of-a-deep-intronic-mutation-in-ocrl-gene-responsible-for-lowe-syndrome
#2
John Rendu, Rodrick Montjean, Charles Coutton, Mohnish Suri, Gaetan Chicanne, Anne Petiot, Julie Brocard, Didier Grunwald, France Pietri Rouxel, Bernard Payrastre, Joel Lunardi, Olivier Dorseuil, Isabelle Marty, Julien Fauré
Dent-2 disease and Lowe syndrome are two pathologies caused by mutations in inositol polyphosphate 5-phosphatase OCRL gene. Both conditions share proximal tubulopathy evolving to chronic kidney failure. Lowe syndrome is in addition defined by a bilateral congenital cataract, intellectual disability, and hypotonia. The pathology evolves in two decades to a severe condition with renal complications and a fatal issue. We describe here a proof of principle for a targeted gene therapy on a mutation of the OCRL gene that is associated with Lowe syndrome...
October 28, 2016: Human Mutation
https://www.readbyqxmd.com/read/27784896/cryptic-exon-activation-in-slc12a3-in-gitelman-syndrome
#3
Kandai Nozu, Yoshimi Nozu, Keita Nakanishi, Takao Konomoto, Tomoko Horinouchi, Akemi Shono, Naoya Morisada, Shogo Minamikawa, Tomohiko Yamamura, Junya Fujimura, Koichi Nakanishi, Takeshi Ninchoji, Hiroshi Kaito, Ichiro Morioka, Mariko Taniguchi-Ikeda, Igor Vorechovsky, Kazumoto Iijima
Gitelman syndrome (GS) is an autosomal recessive renal tubulopathy characterized by hypokalemic metabolic alkalosis with hypocalciuria and hypomagnesemia. GS clinical symptoms range from mild weakness to muscular cramps, paralysis or even sudden death as a result of cardiac arrhythmia. GS is caused by loss-of-function mutations in the solute carrier family 12 member 3 (SLC12A3) gene, but molecular mechanisms underlying such a wide range of symptoms are poorly understood. Here we report cryptic exon activation in SLC12A3 intron 12 in a clinically asymptomatic GS, resulting from an intronic mutation c...
October 27, 2016: Journal of Human Genetics
https://www.readbyqxmd.com/read/27777548/crush-syndrome-chez-l%C3%A2-adulte-et-problematique-de-sa-prise-en-charge-a-la-phase-aigu%C3%A3
#4
P F Hemou, H D Sama, P Tchétikè, T Potkar
Le crush syndrome se définit comme l'ensemble des manifestations locales et générales secondaires à une rhabdomyolyse traumatique avec ischémie de grosses masses musculaires par compression prolongée, à l'origine d'un syndrome compartimental ou syndrome des loges. Rarement isolé, il peut passer inaperçu dans les 24 à 48 premières heures de la phase aiguë d'un traumatisme sévère quand les principales préoccupations médicales sont la sauvegarde des fonctions vitales. La souffrance musculaire liée au syndrome compartimental entraîne la libération de myoglobine dans la circulation générale...
December 31, 2015: Annals of Burns and Fire Disasters
https://www.readbyqxmd.com/read/27771652/fanconi-bickel-syndrome-with-hypercalciuria-due-to-glut-2-mutation
#5
Ruchi Shah, Sudha Rao, Ruchi Parikh, Tahir Sophia, Hussain Khalid
BACKGROUND: Fanconi Bickel Syndrome is a rare, autosomal recessive, disorder of carbohydrate metabolism. Presence of hypercalciuria is rare. CASE CHARACTERISTICS: 4.5-years-old boy presented with growth failure, hepatomegaly, rickets, fasting hypoglycemia with postprandial hyperglycemia, fanconi syndrome and hypercalciuria. OUTCOME: A rare mutation in GLUT-2 gene suggestive of Fanconi Bickel Syndrome. MESSAGE: Fanconi Bickel Syndrome may present with hypercalciuria with proximal renal tubulopathy along with fasting hypoglycemia and postprandial hyperglycemia...
September 8, 2016: Indian Pediatrics
https://www.readbyqxmd.com/read/27757584/proteinuria-in-dent-disease-a-review-of-the-literature
#6
Youri van Berkel, Michael Ludwig, Joanna A E van Wijk, Arend Bökenkamp
BACKGROUND: Dent disease is a rare X-linked recessive proximal tubulopathy caused by mutations in CLCN5 (Dent-1) or OCRL (Dent-2). As a rule, total protein excretion (TPE) is low in tubular proteinuria compared with glomerular disease. Several authors have reported nephrotic-range proteinuria (NP) and glomerulosclerosis in Dent disease. Therefore, we aimed to analyze protein excretion in patients with documented CLCN5 or OCRL mutations in a systematic literature review. DESIGN: PubMed and Embase were searched for cases with documented CLCN5 or OCRL mutations and (semi-)quantitative data on protein excretion...
October 18, 2016: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/27708066/long-term-renal-outcome-in-children-with-ocrl-mutations-retrospective-analysis-of-a-large-international-cohort
#7
Marcin Zaniew, Arend Bökenkamp, Marcin Kołbuc, Claudio La Scola, Federico Baronio, Anna Niemirska, Maria Szczepańska, Julia Bürger, Angela La Manna, Monika Miklaszewska, Anna Rogowska-Kalisz, Jutta Gellermann, Argyroula Zampetoglou, Anna Wasilewska, Magdalena Roszak, Jerzy Moczko, Aleksandra Krzemień, Dariusz Runowski, Grzegorz Siteń, Iga Załuska-Leśniewska, Patrizia Fonduli, Franca Zurrida, Fabio Paglialonga, Zoran Gucev, Dusan Paripovic, Rina Rus, Valerie Said-Conti, Lisa Sartz, Woo Yeong Chung, Se Jin Park, Jung Won Lee, Yong Hoon Park, Yo Han Ahn, Przemysław Sikora, Constantinos J Stefanidis, Velibor Tasic, Martin Konrad, Franca Anglani, Maria Addis, Hae Il Cheong, Michael Ludwig, Detlef Bockenhauer
BACKGROUND: Lowe syndrome (LS) and Dent-2 disease (DD2) are disorders associated with mutations in the OCRL gene and characterized by progressive chronic kidney disease (CKD). Here, we aimed to investigate the long-term renal outcome and identify potential determinants of CKD and its progression in children with these tubulopathies. METHODS: Retrospective analyses were conducted of clinical and genetic data in a cohort of 106 boys (LS: 88 and DD2: 18). For genotype-phenotype analysis, we grouped mutations according to their type and localization...
October 5, 2016: Nephrology, Dialysis, Transplantation
https://www.readbyqxmd.com/read/27662203/amyloid-cast-tubulopathy-a-unique-form-of-immunoglobulin-induced-renal-disease
#8
I-A Iliuta, A P Garneau, E Latulippe, P Isenring
No abstract text is available yet for this article.
2016: Blood Cancer Journal
https://www.readbyqxmd.com/read/27648267/fetal-urine-biochemistry-in-antenatal-bartter-syndrome-a-case-report
#9
Myriam L Rachid, Sophie Dreux, Isabelle Czerkiewicz, Georges Deschênes, Rosa Vargas-Poussou, Dominique Mahieu-Caputo, Jean-François Oury, Françoise Muller
Bartter syndrome is a severe inherited tubulopathy responsible for renal salt wasting, and hence electrolyte disorders and dehydration. Prenatally, it is characterized by severe polyhydramnios caused by fetal polyuria. We studied for the first time fetal urine in a Bartter syndrome case and demonstrated that the tubulopathy is already present at 24 weeks of gestation.
September 2016: Clinical Case Reports
https://www.readbyqxmd.com/read/27526707/paraprotein-related-kidney-disease-kidney-injury-from-paraproteins-what-determines-the-site-of-injury
#10
Mona Doshi, Amit Lahoti, Farhad R Danesh, Vecihi Batuman, Paul W Sanders
Disorders of plasma and B cells leading to paraproteinemias are associated with a variety of renal diseases. Understanding the mechanisms of injury and associated nephropathies provides a framework that aids clinicians in prompt diagnosis and appropriate adjunctive treatment of these disorders. Glomerular diseases that may be associated with paraproteinemias include amyloid deposition, monoclonal Ig deposition disease, proliferative GN with monoclonal Ig deposits, C3 glomerulopathy caused by alterations in the complement pathway, immunotactoid glomerulopathy, fibrillary GN, and cryoglobulinemia...
August 15, 2016: Clinical Journal of the American Society of Nephrology: CJASN
https://www.readbyqxmd.com/read/27526705/paraprotein-related-kidney-disease-diagnosing-and-treating-monoclonal-gammopathy-of-renal-significance
#11
Mitchell H Rosner, Amaka Edeani, Motoko Yanagita, Ilya G Glezerman, Nelson Leung
Paraprotein-related kidney disease represents a complex group of diseases caused by an abnormal paraprotein secreted by a clone of B cells. The disease manifestations range from tubulopathies, such as the Fanconi syndrome, to a spectrum of glomerular diseases that can present with varying degrees of proteinuria and renal dysfunction. Diagnosis of these diseases can be challenging because of the wide range of manifestations as well as the relatively common finding of a serum paraprotein, especially in elderly patients...
August 15, 2016: Clinical Journal of the American Society of Nephrology: CJASN
https://www.readbyqxmd.com/read/27500072/east-syndrome-clinical-pathophysiological-and-genetic-aspects-of-mutations-in-kcnj10
#12
REVIEW
Ola Abdelhadi, Daniela Iancu, Horia Stanescu, Robert Kleta, Detlef Bockenhauer
EAST syndrome is a recently described autosomal recessive disorder secondary to mutations in KCNJ10 (Kir4.1), a gene encoding a potassium channel expressed in the brain, eye, ear and kidney. This condition is characterized by 4 cardinal features; Epilepsy, Ataxia, Sensorineural deafness, and (a renal salt-wasting) Tubulopathy, hence the acronym EAST syndrome. Here we review reported clinical manifestations, in particular the neurological signs and symptoms which typically have the most impact on the quality of life of patients...
2016: Rare Diseases
https://www.readbyqxmd.com/read/27488999/renal-phenotype-in-bardet-biedl-syndrome-a-combined-defect-of-urinary-concentration-and-dilution-is-associated-with-defective-urinary-aqp2-and-umod-excretion
#13
Miriam Zacchia, Enza Zacchia, Enrica Zona, Giovanna Capolongo, Ilaria Raiola, Luca Rinaldi, Francesco Trepiccione, Diego Ingrosso, Alessandra Perna, Valentina Di Iorio, Francesca Simonelli, Orson W Moe, Giovambattista Capasso
The renal phenotype in Bardet-Biedl syndrome (BBS) is highly variable. The present study describes renal findings in 41 BBS patients and analyzes the pathogenesis of hyposthenuria, the most common renal dysfunction. Five of 41 patients (12%) showed an estimated glomerular filtration rate < 60 ml·min(-1)·1.73 m(-2) Urine protein and urine albumin-to-creatinine ratio were over 200 and 30 mg/g in 9/24 and 7/23 patients, respectively. Four of 41 patients showed no renal anomalies on ultrasound. Twenty of 34 patients had hyposthenuria in the absence of renal insufficiency...
October 1, 2016: American Journal of Physiology. Renal Physiology
https://www.readbyqxmd.com/read/27468978/renal-disease-related-to-waldenstr%C3%A3-m-macroglobulinaemia-incidence-pathology-and-clinical-outcomes
#14
Josephine M Vos, Joshua Gustine, Helmut G Rennke, Zachary Hunter, Robert J Manning, Toni E Dubeau, Kirsten Meid, Monique C Minnema, Marie-Jose Kersten, Steven P Treon, Jorge J Castillo
The incidence and prognostic impact of nephropathy related to Waldenström macroglobulinaemia (WM) is currently unknown. We performed a retrospective study to assess biopsy-confirmed WM-related nephropathy in a cohort of 1391 WM patients seen at a single academic institution. A total of 44 cases were identified, the estimated cumulative incidence was 5·1% at 15 years. There was a wide variation in kidney pathology, some directly related to the WM: amyloidosis (n = 11, 25%), monoclonal-IgM deposition disease/cryoglobulinaemia (n = 10, 23%), lymphoplasmacytic lymphoma infiltration (n = 8, 18%), light-chain deposition disease (n = 4, 9%) and light-chain cast nephropathy (n = 4, 9%), and some probably related to the WM: thrombotic microangiopathy (TMA) (n = 3, 7%), minimal change disease (n = 2, 5%), membranous nephropathy (n = 1, 2%) and crystal-storing tubulopathy (n = 1, 2%)...
November 2016: British Journal of Haematology
https://www.readbyqxmd.com/read/27454426/genetic-features-of-chinese-patients-with-gitelman-syndrome-sixteen-novel-slc12a3-mutations-identified-in-a-new-cohort
#15
Jun Ma, Hong Ren, Li Lin, Chunli Zhang, Zhaohui Wang, Jingyuan Xie, Ping-Yan Shen, Wen Zhang, Weiming Wang, Xiao-Nong Chen, Nan Chen
BACKGROUND: Gitelman syndrome (GS) is an autosomal recessive renal tubulopathy caused by inactivating mutations in the SLC12A3 gene. Although hundreds of different mutations across the SLC12A3 gene have been reported worldwide, data from mainland China are limited. We investigated the clinical manifestations and genetic features of Chinese patients with GS. METHODS: Fifty-four unrelated Chinese patients with clinically diagnosed GS were included. Clinical manifestations and biochemical parameters were collected and analyzed...
2016: American Journal of Nephrology
https://www.readbyqxmd.com/read/27424703/fanconi-syndrome-due-to-light-chain-proximal-tubulopathy-in-a-patient-with-multiple-myeloma
#16
Mohit Mathur, Bobby Chacko, Mahesha Vankalakunti, Channappa Patil
Fanconi syndrome (FS) in an adult patient is an unusual finding and it merits thorough evaluation. Paraproteinemias are one of the common etiologies in adult FS and need to be ruled out. Among the various forms of renal involvement in multiple myeloma, light chain proximal tubulopathy (LCPT) is the rarest. Usually, it causes proximal tubular dysfunction which is characterized by intracytoplasmic deposition of crystallized, mostly kappa monoclonal light chains in proximal tubules; however, glomerular crystal deposition is unusual...
July 2016: Saudi Journal of Kidney Diseases and Transplantation
https://www.readbyqxmd.com/read/27393905/paediatric-cancer-survivors-demonstrate-a-high-rate-of-subclinical-renal-dysfunction
#17
Abdullahi Mudi, Cecil Steven Levy, Jennifer Ann Geel, Janet Elizabeth Poole
BACKGROUND: Clinical manifestations of renal dysfunction in childhood cancer survivors include hypertension, proteinuria, tubulopathy (and its biochemical consequences) and renal insufficiency. This study aimed to determine the factors associated with renal dysfunction in paediatric cancer survivors at a single centre in Johannesburg. PROCEDURE: A descriptive cross-sectional study was performed on 130 cancer survivors between 2 and 18 years of age. Physical examination and screening urine dipstick were performed on all patients...
November 2016: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/27387245/treatment-of-severe-life-threatening-hypocalcemia-with-recombinant-human-teriparatide-in-patients-with-postoperative-hypoparathyroidism-a-case-series
#18
Elżbieta Andrysiak-Mamos, Ewa Żochowska, Agnieszka Kaźmierczyk-Puchalska, Michał Popow, Dorota Kaczmarska-Turek, Janusz Pachucki, Tomasz Bednarczuk, Anhelli Syrenicz
INTRODUCTION: Hypocalcaemia is a common postoperative complication, both after the resection of parathyroid adenoma associated with primary hyperparathyroidism and after total thyroidectomy due to thyroid cancer or nodular goitre. For a few years, in patients with postoperative hypoparathyroidism and severe hypocalcaemia, who cannot discontinue intravenous calcium preparations even with the use of high vitamin D doses, attempts have been made to add recombinant human parathormone (rhPTH) to the treatment schedule...
2016: Endokrynologia Polska
https://www.readbyqxmd.com/read/27370603/trnt1-deficiency-clinical-biochemical-and-molecular-genetic-features
#19
Yehani Wedatilake, Rojeen Niazi, Elisa Fassone, Christopher A Powell, Sarah Pearce, Vincent Plagnol, José W Saldanha, Robert Kleta, W Kling Chong, Emma Footitt, Philippa B Mills, Jan-Willem Taanman, Michal Minczuk, Peter T Clayton, Shamima Rahman
BACKGROUND: TRNT1 (CCA-adding transfer RNA nucleotidyl transferase) enzyme deficiency is a new metabolic disease caused by defective post-transcriptional modification of mitochondrial and cytosolic transfer RNAs (tRNAs). RESULTS: We investigated four patients from two families with infantile-onset cyclical, aseptic febrile episodes with vomiting and diarrhoea, global electrolyte imbalance during these episodes, sideroblastic anaemia, B lymphocyte immunodeficiency, retinitis pigmentosa, hepatosplenomegaly, exocrine pancreatic insufficiency and renal tubulopathy...
July 2, 2016: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/27367983/loss-of-tubular-creatinine-secretion-as-the-only-sign-of-tubular-proximal-cell-dysfunction-in-light-chain-proximal-tubulopathy-a-case-report
#20
Thomas Stehlé, Marguerite Vignon, Martin Flamant, Marie-Lucile Figueres, Marion Rabant, Anita Rodenas, Laure-Hélène Noël, Bertrand Arnulf, Emmanuelle Vidal-Petiot
Light chain proximal tubulopathy (LCPT) is a rare disease, characterized by cytoplasmic inclusions of light chain (usually kappa) immunoglobulins. Clinical presentation is usually a Fanconi syndrome. The proximal tubular dysfunction can be incomplete, and exceptional cases of LCPT without any tubular dysfunction have even been described. Here, we report a case of LCPT in which the only sign of proximal tubulopathy is the absence of secretion of creatinine, as assessed by the simultaneous measurement of renal clearance of creatinine and CrEDTA...
June 2016: Medicine (Baltimore)
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