collection
https://read.qxmd.com/read/32185747/isolated-nephrocalcinosis-due-to-compound-heterozygous-mutations-in-renal-outer-medullary-potassium-channel
#1
JOURNAL ARTICLE
Priyanka Khandelwal, Jasintha Sabanadesan, Aditi Sinha, Pankaj Hari, Arvind Bagga
Identification of a monogenic etiology is possible in a proportion of patients with childhood-onset nephrolithiasis or nephrocalcinosis. Bartter syndrome (BS), a hereditary tubulopathy characterized by polyuria, hypokalemic alkalosis and growth retardation that rarely presents with isolated nephrocalcinosis. Patients with defect in renal outer medullary potassium channel, encoded by the KCNJ1 gene causing BS type 2, typically present during the neonatal period. We describe a 14-year-old girl with mild late-onset BS type 2 with reported pathogenic compound heterozygous variations in exon 2 of KCNJ1 (c...
March 17, 2020: CEN Case Reports
https://read.qxmd.com/read/31870500/defective-bicarbonate-reabsorption-in-kir4-2-potassium-channel-deficient-mice-impairs-acid-base-balance-and-ammonia-excretion
#2
JOURNAL ARTICLE
Yohan Bignon, Laurent Pinelli, Nadia Frachon, Olivier Lahuna, Lucile Figueres, Pascal Houillier, Stéphane Lourdel, Jacques Teulon, Marc Paulais
The kidneys excrete the daily acid load mainly by generating and excreting ammonia but the underlying molecular mechanisms are not fully understood. Here we evaluated the role of the inwardly rectifying potassium channel subunit Kir4.2 (Kcnj15 gene product) in this process. In mice, Kir4.2 was present exclusively at the basolateral membrane of proximal tubular cells and disruption of Kcnj15 caused a hyperchloremic metabolic acidosis associated with a reduced threshold for bicarbonate in the absence of a generalized proximal tubule dysfunction...
February 2020: Kidney International
https://read.qxmd.com/read/31664557/bartter-and-gitelman-syndromes-questions-of-class
#3
REVIEW
Martine T P Besouw, Robert Kleta, Detlef Bockenhauer
Bartter and Gitelman syndromes are rare inherited tubulopathies characterized by hypokalaemic, hypochloraemic metabolic alkalosis. They are caused by mutations in at least 7 genes involved in the reabsorption of sodium in the thick ascending limb (TAL) of the loop of Henle and/or the distal convoluted tubule (DCT). Different subtypes can be distinguished and various classifications have been proposed based on clinical symptoms and/or the underlying genetic cause. Yet, the clinical phenotype can show remarkable variability, leading to potential divergences between classifications...
October 2020: Pediatric Nephrology
https://read.qxmd.com/read/31325522/the-utility-of-next-generation-sequencing-in-the-correct-diagnosis-of-congenital-hypochloremic-hypokalemic-metabolic-alkalosis
#4
JOURNAL ARTICLE
Yael Ben-David, Rephael Halevy, Waheeb Sakran, Yoav Zehavi, Ronen Spiegel
Persistent hypokalemic hypochloremic metabolic alkalosis represents a heterogeneous group of genetic disorders of which the most common is Bartter syndrome (BS). BS is an inherited renal tubulopathy caused by defective salt reabsorption in the thick ascending loop of Henle, which results in persistent hypokalemic hypochloremic metabolic alkalosis. Here we report a 10-year-old girl of a consanguineous family. She presented prenatally with severe polyhydramnios and distended bowel loops. Thereafter, she displayed failure to thrive and had recurrent admissions due to dehydration episodes associated with diarrhea, and characterized by hypokalemia, hypochloremia and metabolic alkalosis...
October 2019: European Journal of Medical Genetics
https://read.qxmd.com/read/31441846/a-novel-compound-heterozygous-kcnj1-gene-mutation-presenting-as-late-onset-bartter-syndrome-case-report
#5
JOURNAL ARTICLE
Jingyi Li, Shoulong Hu, Yi Nie, Rongfeng Wang, Ming Tan, Hongmei Li, Shuanli Zhu
RATIONALE: Bartter syndrome is an autosomal-recessive inherited disease in which patients present with hypokalemia and metabolic alkalosis. We present 1 case with Bartter syndrome, due to a novel compound heterozygous mutation in the KCNJ1 gene encoding the ATP-sensitive inward rectifier potassium channel in the thick ascending limb of the loop of Henle. PATIENT CONCERNS: A patient was admitted to our hospital because of weakness, polyuria, and polydipsia. At presentation to our hospital, the female Chinese patient was 34 years old and her physical examination was normal...
August 2019: Medicine (Baltimore)
https://read.qxmd.com/read/31474092/proximal-renal-tubular-acidosis-with-and-without-fanconi-syndrome
#6
REVIEW
Ibrahim Kashoor, Daniel Batlle
Proximal renal tubular acidosis (RTA) is caused by a defect in bicarbonate (HCO3 - ) reabsorption in the kidney proximal convoluted tubule. It usually manifests as normal anion-gap metabolic acidosis due to HCO3 - wastage. In a normal kidney, the thick ascending limb of Henle's loop and more distal nephron segments reclaim all of the HCO3 - not absorbed by the proximal tubule. Bicarbonate wastage seen in type II RTA indicates that the proximal tubular defect is severe enough to overwhelm the capacity for HCO3 - reabsorption beyond the proximal tubule...
September 30, 2019: Kidney Research and Clinical Practice
https://read.qxmd.com/read/31480048/gut-it-out-laxative-abuse-mimicking-distal-renal-tubular-acidosis
#7
Marius Sidler, Nilufar Mohebbi, Ewout J Hoorn, Carsten A Wagner
BACKGROUND: Distal renal tubular acidosis (dRTA) can be inherited or acquired. CASE PRESENTATION: Here, we describe the case of a 45-year-old female patient with non-anion gap metabolic acidosis, hypokalemia, and alkaline urine. She had a history of rheumatoid arthritis and kidney stones and failed to acidify urine upon the fludrocortisone and furosemide test. Therefore, the diagnosis of dRTA secondary to an autoimmune disease was made. A kidney biopsy was examined for markers of acid-secretory intercalated cells...
2019: Kidney & Blood Pressure Research
https://read.qxmd.com/read/30773598/treatment-and-long-term-outcome-in-primary-distal-renal-tubular-acidosis
#8
JOURNAL ARTICLE
Sergio Camilo Lopez-Garcia, Francesco Emma, Stephen B Walsh, Marc Fila, Nakysa Hooman, Marcin Zaniew, Aurélia Bertholet-Thomas, Giacomo Colussi, Kathrin Burgmaier, Elena Levtchenko, Jyoti Sharma, Jyoti Singhal, Neveen A Soliman, Gema Ariceta, Biswanath Basu, Luisa Murer, Velibor Tasic, Alexey Tsygin, Stéphane Decramer, Helena Gil-Peña, Linda Koster-Kamphuis, Claudio La Scola, Jutta Gellermann, Martin Konrad, Marc Lilien, Telma Francisco, Despoina Tramma, Peter Trnka, Selçuk Yüksel, Maria Rosa Caruso, Milan Chromek, Zelal Ekinci, Giovanni Gambaro, Jameela A Kari, Jens König, Francesca Taroni, Julia Thumfart, Francesco Trepiccione, Louise Winding, Elke Wühl, Ayşe Ağbaş, Anna Belkevich, Rosa Vargas-Poussou, Anne Blanchard, Giovanni Conti, Olivia Boyer, Ismail Dursun, Ayşe Seda Pınarbaşı, Engin Melek, Marius Miglinas, Robert Novo, Andrew Mallett, Danko Milosevic, Maria Szczepanska, Sarah Wente, Hae Il Cheong, Rajiv Sinha, Zoran Gucev, Stephanie Dufek, Daniela Iancu, Robert Kleta, Franz Schaefer, Detlef Bockenhauer
BACKGROUND: Primary distal renal tubular acidosis (dRTA) is a rare disorder, and we aimed to gather data on treatment and long-term outcome. METHODS: We contacted paediatric and adult nephrologists through European professional organizations. Responding clinicians entered demographic, biochemical, genetic and clinical data in an online form. RESULTS: Adequate data were collected on 340 patients (29 countries, female 52%). Mutation testing had been performed on 206 patients (61%); pathogenic mutations were identified in 170 patients (83%)...
June 1, 2019: Nephrology, Dialysis, Transplantation
https://read.qxmd.com/read/30139463/incomplete-distal-renal-tubular-acidosis-and-kidney-stones
#9
REVIEW
Daniel G Fuster, Orson W Moe
Renal tubular acidosis (RTA) is comprised of a diverse group of congenital or acquired diseases with the common denominator of defective renal acid excretion with protean manifestation, but in adults, recurrent kidney stones and nephrocalcinosis are mainly found in presentation. Calcium phosphate (CaP) stones and nephrocalcinosis are frequently encountered in distal hypokalemic RTA type I. Alkaline urinary pH, hypocitraturia, and, less frequently, hypercalciuria are the tripartite lithogenic factors in distal RTA (dRTA) predisposing to CaP stone formation; the latter 2 are also commonly encountered in other causes of urolithiasis...
July 2018: Advances in Chronic Kidney Disease
https://read.qxmd.com/read/28003083/gitelman-syndrome-consensus-and-guidance-from-a-kidney-disease-improving-global-outcomes-kdigo-controversies-conference
#10
JOURNAL ARTICLE
Anne Blanchard, Detlef Bockenhauer, Davide Bolignano, Lorenzo A Calò, Etienne Cosyns, Olivier Devuyst, David H Ellison, Fiona E Karet Frankl, Nine V A M Knoers, Martin Konrad, Shih-Hua Lin, Rosa Vargas-Poussou
Gitelman syndrome (GS) is a rare, salt-losing tubulopathy characterized by hypokalemic metabolic alkalosis with hypomagnesemia and hypocalciuria. The disease is recessively inherited, caused by inactivating mutations in the SLC12A3 gene that encodes the thiazide-sensitive sodium-chloride cotransporter (NCC). GS is usually detected during adolescence or adulthood, either fortuitously or in association with mild or nonspecific symptoms or both. The disease is characterized by high phenotypic variability and a significant reduction in the quality of life, and it may be associated with severe manifestations...
January 2017: Kidney International
https://read.qxmd.com/read/27757584/proteinuria-in-dent-disease-a-review-of-the-literature
#11
REVIEW
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 2017: Pediatric Nephrology
https://read.qxmd.com/read/27493007/the-need-for-genetic-study-to-diagnose-some-cases-of-distal-renal-tubular-acidosis
#12
JOURNAL ARTICLE
Manuel Heras Benito, Miguel A Garcia-Gonzalez, María Valdenebro Recio, Álvaro Molina Ordás, Ramiro Callejas Martínez, María Astrid Rodríguez Gómez, Leonardo Calle García, Lisbeth Sousa Silva, María José Fernández-Reyes Luis
We describe the case of a young woman who was diagnosed with advanced kidney disease, with an incidental finding of nephrocalcinosis of unknown aetiology, having been found asymptomatic throughout her life. The genetic study by panels of known genes associated with tubulointerstitial disease allowed us to discover autosomal dominant distal renal tubular acidosis associated with a de novo mutation in exon 14 of the SLC4A1 gene, which would have been impossible to diagnose clinically due to the advanced nature of the kidney disease when it was discovered...
September 2016: Nefrología: Publicación Oficial de la Sociedad Española Nefrologia
https://read.qxmd.com/read/27274828/a-novel-heterozygous-mutation-in-the-atp6v0a4-gene-encoding-the-v-atpase-a4-subunit-in-an-adult-patient-with-incomplete-distal-renal-tubular-acidosis
#13
JOURNAL ARTICLE
Eri Imai, Shuzo Kaneko, Takayasu Mori, Tomokazu Okado, Shinichi Uchida, Yusuke Tsukamoto
A 40-year-old Japanese man who had a medical history of hypokalemic periodic paralysis 4 months prior was hospitalized to undergo a cholecystectomy. Hypokalemia, nephrocalcinosis and alkaluria suggesting distal renal tubular acidosis (dRTA) were detected, but metabolic acidosis was not evident. An ammonium chloride/furosemide-fludrocortisone/bicarbonate loading test demonstrated a remarkable disability in urinary H(+) excretion. A novel heterozygous mutation in the ATP6V0A4 gene encoding the vacuolar H(+)-ATPase (V-ATPase) a4 subunit p...
June 2016: Clinical Kidney Journal
https://read.qxmd.com/read/27247958/mutations-in-atp6v1b1-and-atp6v0a4-genes-cause-recessive-distal-renal-tubular-acidosis-in-mexican-families
#14
JOURNAL ARTICLE
Laura I Escobar, Christopher Simian, Cyrielle Treard, Donia Hayek, Carolina Salvador, Norma Guerra, Mario Matos, Mara Medeiros, Sandra Enciso, María Dolores Camargo, Rosa Vargas-Poussou
BACKGROUND: Autosomal recessive distal renal tubular acidosis (dRTA) is a rare disease characterized by a hyperchloremic metabolic acidosis with normal anion gap, hypokalemia, hypercalciuria, hypocitraturia, nephrocalcinosis, and conserved glomerular filtration rate. In some cases, neurosensorial deafness is associated. dRTA is developed during the first months of life and the main manifestations are failure to thrive, vomiting, dehydration, and anorexia. METHODS: Nine unrelated families were studied: seven children, a teenager, and an adult with dRTA...
May 2016: Molecular Genetics & Genomic Medicine
https://read.qxmd.com/read/27090423/bilateral-nephrocalcinosis-in-primary-distal-renal-tubular-acidosis
#15
JOURNAL ARTICLE
Siwadon Pitukweerakul, Sittichoke Prachuapthunyachart
No abstract text is available yet for this article.
October 2016: Journal of General Internal Medicine
https://read.qxmd.com/read/26817011/pseudohypoaldosteronism-in-a-newborn-male-with-functional-polymorphisms-in-the-mineralocorticoid-receptor-genes
#16
JOURNAL ARTICLE
Hyun Ah Jeong, Yoon Kyoung Park, Yeong Sang Jung, Myung-Hyun Nam, Hyo-Kyoung Nam, Kee Hyoung Lee, Young-Jun Rhie
Hyponatremia and hyperkalemia in infancy can be attributed to various causes, originating from a variety of renal and genetic disorders. Pseudohypoaldosteronism type 1 (PHA1) is one of these disorders, causing mineralocorticoid resistance that results in urinary salt wasting, failure to thrive, metabolic acidosis, and dehydration. PHA1 is heterogeneous in etiology. Inactivating mutations in the NR3C2 gene (4q31.1), which encodes the mineralocorticoid receptor, causes a less severe autosomal dominant form that is restricted to the kidney, while mutations in the amiloride-sensitive epithelial sodium channel gene (alpha subunit=SCNN1A, 12p13; beta subunit=SCNN1b, 16p12...
December 2015: Annals of Pediatric Endocrinology & Metabolism
https://read.qxmd.com/read/26770037/mutations-in-slc12a3-and-clcnkb-and-their-correlation-with-clinical-phenotype-in-patients-with-gitelman-and-gitelman-like-syndrome
#17
JOURNAL ARTICLE
Jae Wook Lee, Jeonghwan Lee, Nam Ju Heo, Hae Il Cheong, Jin Suk Han
Gitelman's syndrome (GS) is caused by loss-of-function mutations in SLC12A3 and characterized by hypokalemic metabolic alkalosis, hypocalciuria, and hypomagnesemia. Long-term prognosis and the role of gene diagnosis in GS are still unclear. To investigate genotype-phenotype correlation in GS and Gitelman-like syndrome, we enrolled 34 patients who showed hypokalemic metabolic alkalosis without secondary causes. Mutation analysis of SLC12A3 and CLCNKB was performed. Thirty-one patients had mutations in SLC12A3, 5 patients in CLCNKB, and 2 patients in both genes...
January 2016: Journal of Korean Medical Science
https://read.qxmd.com/read/26550501/an-unexpected-cause-of-severe-hypokalemia
#18
JOURNAL ARTICLE
Fernando Caravaca-Fontan, Olga Martinez-Saez, Maria Delgado-Yague, Estefania Yerovi, Fernando Liaño
We describe an unusual case of severe hypokalemia with electrocardiographic changes, due to licorice consumption, in a 15-year-old female student with no previous medical history. Prompt replacement of potassium and cessation of licorice ingestion resulted in a favourable outcome. We also discuss the pathophysiology and diagnosis, emphasizing the importance of a detailed anamnesis to rule out an often forgotten cause of hypokalemia as the licorice poisoning.
2015: Case Reports in Nephrology
https://read.qxmd.com/read/26613020/familial-hypomagnesaemia-with-hypercalciuria-and-nephrocalcinosis-clinical-and-molecular-characteristics
#19
JOURNAL ARTICLE
Felix Claverie-Martin
Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis (FHHNC) is an autosomal-recessive renal tubular disorder characterized by excessive urinary losses of magnesium and calcium, bilateral nephrocalcinosis and progressive chronic renal failure. Presentation with FHHNC symptoms generally occurs early in childhood or before adolescence. At present, the only therapeutic option is supportive and consists of oral magnesium supplementation and thiazide diuretics. However, neither treatment seems to have a significant effect on the levels of serum magnesium or urine calcium or on the decline of renal function...
December 2015: Clinical Kidney Journal
https://read.qxmd.com/read/26598821/the-role-of-sodium-dependent-phosphate-transporter-in-phosphate-homeostasis
#20
REVIEW
Hiroko Segawa, Yuji Shiozaki, Ichiro Kaneko, Ken-ichi Miyamoto
Inorganic phosphate (Pi) is an essential compound for several biologic functions. Pi levels outside the normal range, however, contribute to several pathological processes. Hypophosphatemia leads to bone abnormalities, such as rickets/osteomalacia. Hyperphosphatemia contributes to vascular calcification in patients with chronic kidney disease and hemodialysis patients and is independently associated with cardiac mortality.Pi homeostasis is regulated by the coordinated function of renal and intestinal sodium-dependent phosphate (NaPi) transporters with dietary Pi, parathyroid hormone, 1,25-dihydroxyvitamin D3, and fibroblast growth factor 23...
2015: Journal of Nutritional Science and Vitaminology
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