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By P O Pediatrics, Nephrology
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%)...
February 18, 2019: Nephrology, Dialysis, Transplantation
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
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
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: Journal of the International Pediatric Nephrology Association
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
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
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
Siwadon Pitukweerakul, Sittichoke Prachuapthunyachart
No abstract text is available yet for this article.
October 2016: Journal of General Internal Medicine
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
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
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
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
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
Shintaro Yamaguchi, Tatsuya Maruyama, Shu Wakino, Hirobumi Tokuyama, Akinori Hashiguchi, Shinichiro Tada, Koichiro Homma, Toshiaki Monkawa, James Thomas, Kazutoshi Miyashita, Isao Kurihara, Tadashi Yoshida, Konosuke Konishi, Koichi Hayashi, Matsuhiko Hayashi, Hiroshi Itoh
BACKGROUND: Primary biliary cirrhosis (PBC) is an immune-mediated chronic cholestatic liver disease, characterized by increased concentrations of serum IgM and the presence of circulating anti-mitochondrial antibodies. Although bone diseases such as osteoporosis or osteodystrophy are commonly associated with PBC, osteomalacia which is caused by abnormal vitamin D metabolism, mineralization defects, and phosphate deficiency has not been recognized as a complication of PBC. CASE PRESENTATION: We report the case of a 49-year-old Japanese woman who complained of multiple fractures...
2015: BMC Nephrology
Ita Pfeferman Heilberg, Cláudia Tótoli, Joaquim Tomaz Calado
Bartter syndrome comprises a group of rare autosomal-recessive salt-losing disorders with distinct phenotypes, but one unifying pathophysiology consisting of severe reductions of sodium reabsorption caused by mutations in five genes expressed in the thick ascending limb of Henle, coupled with increased urinary excretion of potassium and hydrogen, which leads to hypokalemic alkalosis. Bartter syndrome type IV, caused by loss-of-function mutations in barttin, a subunit of chloride channel CLC-Kb expressed in the kidney and inner ear, usually occurs in the antenatal-neonatal period...
October 2015: Einstein
Nina Boiko, Volodymyr Kucher, James D Stockand
These studies test whether three disease-causing mutations in genes (SCNN1A and SCNN1G) encoding subunits of the epithelial Na(+) channel, ENaC, affect the biophysical and gating properties of this important renal ion channel. The S562P missense mutation in αENaC and the K106_S108delinsN mutation in γENaC are associated with pseudohypoaldosteronism type 1 (PHA1). The N530S missense mutation in γENaC causes Liddle's syndrome. Incorporation of S562P into αENaC and K106_S108N into γENaC resulted in significant decreases in macroscopic ENaC currents...
November 2015: Physiological Reports
Monica Carmosino, Andrea Gerbino, Geoffrey N Hendy, Silvia Torretta, Federica Rizzo, Lucantonio Debellis, Giuseppe Procino, Maria Svelto
BACKGROUND INFORMATION: The gain-of-function A843E mutation of the calcium sensing receptor (CaR) causes Bartter syndrome type 5. Patients carrying this CaR variant show a remarkably reduced renal NaCl reabsorption in the thick ascending limb (TAL) of Henle's loop resulting in renal loss of NaCl in the absence of mutations in renal Na(+) and Cl(-) ion transporters. The molecular mechanisms underlying this clinical phenotype are incompletely understood. We investigated, in human embryonic kidney 293 (HEK 293) cells and porcine kidney epithelial (LLC-PK1) cells, the functional cross-talk of CaR-A843E with the Na(+):K(+):2Cl(-) co-transporter, NKCC2, which provides NaCl reabsorption in the TAL...
April 2015: Biology of the Cell
Franca Anglani, Angela D'Angelo, Luisa Maria Bertizzolo, Enrica Tosetto, Monica Ceol, Daniela Cremasco, Luciana Bonfante, Maria Antonietta Addis, Dorella Del Prete
Dent disease (DD) is a rare X-linked recessive renal tubulopathy characterised by low-molecular-weight proteinuria (LMWP), hypercalciuria, nephrocalcinosis and/or nephrolithiasis. DD is caused by mutations in both the CLCN5 and OCRL genes. CLCN5 encodes the electrogenic chloride/proton exchanger ClC-5 which is involved in the tubular reabsorption of albumin and LMW proteins, OCRL encodes the inositol polyphosphate 5-phosphatase, and was initially associated with Lowe syndrome. In approximately 25 % of patients, no CLCN5 and OCRL mutations were detected...
2015: SpringerPlus
Farahnak Assadi, Fatemeh Ghane Sharbaf
BACKGROUND: Congenital nephrogenic diabetes insipidus (NDI) is characterized by massive polyuria and polydipsia due to defects in the vasopressin-sensitive signaling system expression of the acuaporin-2 (AQP2) water channel of the kidney collecting duct principal cells. Current conventional treatment regimen including hydration, diuretics and nonsteroidal anti-inflammatory drugs can only partially reduce polyuria. Recent experimental studies have suggested that treatment with sildenafil, a selective phosphodiesterase inhibitor, may enhance cyclic guanosine monophosphate (cGMP)-mediated apical trafficking of AQP2 and may be effective in increasing water reabsorption in patients with congenital NDI...
2015: American Journal of Nephrology
Patricia G Vallés, Victoria Bocanegra, Andrea Gil Lorenzo, Valeria Victoria Costantino
The sodium-hydrogen exchanger isoform-1 [NHE1] is a ubiquitously expressed plasma membrane protein that plays a central role in intracellular pH and cell volume homeostasis by catalyzing an electroneutral exchange of extracellular sodium and intracellular hydrogen. Outside of this important physiological function, the NHE1 cytosolic tail domain acts as a molecular scaffold regulating cell survival and actin cytoskeleton organization through NHE1-dependent signaling proteins. NHE1 plays main roles in response to physiological stress conditions which in addition to cell shrinkage and acidification, include hypoxia and mechanical stimuli, such as cell stretch...
2015: Kidney & Blood Pressure Research
2015-09-01 21:40:39
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