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  1 / 2528 MEDLINE  
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[PMID]:28823583
[Au] Autor:Perrone D; Afridi F; King-Morris K; Komarla A; Kar P
[Ad] Endereço:University of Central Florida/HCA Graduate Medical Education Consortium Internal Medicine Residency Program, Department of Internal Medicine, University of Central Florida College of Medicine, Orlando, FL. Electronic address: dana.perrone@ucf.edu.
[Ti] Título:Proximal Renal Tubular Acidosis (Fanconi Syndrome) Induced by Apremilast: A Case Report.
[So] Source:Am J Kidney Dis;70(5):729-731, 2017 Nov.
[Is] ISSN:1523-6838
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Apremilast is a recently developed phosphodiesterase 4-inhibitory medication approved for use to treat psoriasis and psoriatic arthritis. We report a case of Fanconi syndrome and proximal renal tubular acidosis that was associated with this medication. Our patient was started on treatment with apremilast 2 weeks before his admission. On arrival, laboratory test results were significant for hypokalemia, hyperchloremic metabolic acidosis, low uric acid concentration, positive urine anion gap, and proteinuria, which resolved on discontinuation of the drug. Two months after the hospitalization, he was restarted on apremilast therapy; 17 days after resumption, the patient was admitted for similar laboratory values, which again improved when apremilast treatment was discontinued. After discharge, laboratory values remained normal without long-term electrolyte repletion. Proximal renal tubular acidosis (Fanconi syndrome) with quick correction of electrolyte concentrations on discontinuation of the drug was diagnosed. Our patient lacked evidence of other causes. Our patient fulfilled criteria associated with this disease and responded well off treatment with the offending agent. Literature review did not reveal prior cases associated with this medication.
[Mh] Termos MeSH primário: Acidose Tubular Renal/induzido quimicamente
Anti-Inflamatórios não Esteroides/efeitos adversos
Artrite Psoriásica/tratamento farmacológico
Síndrome de Fanconi/induzido quimicamente
Talidomida/análogos & derivados
[Mh] Termos MeSH secundário: Acidose/sangue
Acidose/induzido quimicamente
Acidose Tubular Renal/sangue
Idoso
Síndrome de Fanconi/sangue
Seres Humanos
Hipopotassemia/sangue
Hipopotassemia/induzido quimicamente
Masculino
Proteinúria/induzido quimicamente
Talidomida/efeitos adversos
Ácido Úrico/sangue
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Anti-Inflammatory Agents, Non-Steroidal); 268B43MJ25 (Uric Acid); 4Z8R6ORS6L (Thalidomide); UP7QBP99PN (apremilast)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171030
[Lr] Data última revisão:
171030
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170822
[St] Status:MEDLINE


  2 / 2528 MEDLINE  
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[PMID]:28775128
[Au] Autor:Goldfarb DS
[Ad] Endereço:Nephrology Division, New York Harbor Department of Veterans Affairs Medical Center, New York, New York; and Nephrology Division, New York University School of Medicine, New York, New York david.goldfarb@nyumc.org.
[Ti] Título:Refining Diagnostic Approaches in Nephrolithiasis: Incomplete Distal Renal Tubular Acidosis.
[So] Source:Clin J Am Soc Nephrol;12(9):1380-1382, 2017 09 07.
[Is] ISSN:1555-905X
[Cp] País de publicação:United States
[La] Idioma:eng
[Mh] Termos MeSH primário: Acidose Tubular Renal
Cálculos Renais
[Mh] Termos MeSH secundário: Seres Humanos
[Pt] Tipo de publicação:EDITORIAL; RESEARCH SUPPORT, N.I.H., EXTRAMURAL; COMMENT
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171025
[Lr] Data última revisão:
171025
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170805
[St] Status:MEDLINE
[do] DOI:10.2215/CJN.07160717


  3 / 2528 MEDLINE  
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[PMID]:28646128
[Au] Autor:Duangtum N; Junking M; Phadngam S; Sawasdee N; Castiglioni A; Charngkaew K; Limjindaporn T; Isidoro C; Yenchitsomanus PT
[Ad] Endereço:Division of Molecular Medicine, Department of Research and Development, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok 10700, Thailand.
[Ti] Título:γ-COPI mediates the retention of kAE1 G701D protein in Golgi apparatus - a mechanistic explanation of distal renal tubular acidosis associated with the G701D mutation.
[So] Source:Biochem J;474(15):2573-2584, 2017 Jul 17.
[Is] ISSN:1470-8728
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Mutations of the ( ) gene encoding kidney anion (chloride/bicarbonate ion) exchanger 1 (kAE1) can cause genetic distal renal tubular acidosis (dRTA). Different mutations give rise to mutant kAE1 proteins with distinct defects in protein trafficking. The mutant kAE1 protein may be retained in endoplasmic reticulum (ER) or Golgi apparatus, or mis-targeted to the apical membrane, failing to display its function at the baso-lateral membrane. The ER-retained mutant kAE1 interacts with calnexin chaperone protein; disruption of this interaction permits the mutant kAE1 to reach the cell surface and display anion exchange activity. However, the mechanism of Golgi retention of mutant kAE1 G701D protein, which is otherwise functional, is still unclear. In the present study, we show that Golgi retention of kAE1 G701D is due to a stable interaction with the Golgi-resident protein, coat protein complex I (COPI), that plays a role in retrograde vesicular trafficking and Golgi-based quality control. The interaction and co-localization of kAE1 G701D with the γ-COPI subunit were demonstrated in human embryonic kidney (HEK-293T) cells by co-immunoprecipitation and immunofluorescence staining. Small interference RNA (siRNA) silencing of COPI expression in the transfected HEK-293T cells increased the cell surface expression of transgenic kAE1 G701D, as shown by immunofluorescence staining. Our data unveil the molecular mechanism of Golgi retention of kAE1 G701D and suggest that disruption of the COPI-kAE1 G701D interaction could be a therapeutic strategy to treat dRTA caused by this mutant.
[Mh] Termos MeSH primário: Acidose Tubular Renal/metabolismo
Proteína 1 de Troca de Ânion do Eritrócito/genética
Proteína Coatomer/metabolismo
Complexo de Golgi/metabolismo
Mutação/genética
[Mh] Termos MeSH secundário: Proteínas Adaptadoras de Transdução de Sinal
Proteína 1 de Troca de Ânion do Eritrócito/metabolismo
Técnicas de Silenciamento de Genes
Complexo de Golgi/ultraestrutura
Células HEK293
Seres Humanos
Rim/patologia
Rim/ultraestrutura
Modelos Biológicos
Proteínas Mutantes/metabolismo
Ligação Proteica
Subunidades Proteicas/metabolismo
RNA Interferente Pequeno/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Adaptor Proteins, Signal Transducing); 0 (Anion Exchange Protein 1, Erythrocyte); 0 (COPG protein, human); 0 (Coatomer Protein); 0 (Mutant Proteins); 0 (Protein Subunits); 0 (RNA, Small Interfering)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170731
[Lr] Data última revisão:
170731
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170625
[St] Status:MEDLINE
[do] DOI:10.1042/BCJ20170088


  4 / 2528 MEDLINE  
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[PMID]:28407820
[Au] Autor:DU J; Pang QQ; Jiang Y; Wang O; Li M; Xing XP; Xia WB
[Ad] Endereço:Department of Endocrinology/Key Laboratory of Endocrinology, Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing 100730, China. xiaweibo@medmail.com.cn.
[Ti] Título:[Clinical features of hereditary distal renal tubular acidosis and SLC4A1 gene mutation].
[So] Source:Zhongguo Dang Dai Er Ke Za Zhi;19(4):381-384, 2017 Apr.
[Is] ISSN:1008-8830
[Cp] País de publicação:China
[La] Idioma:chi
[Ab] Resumo:OBJECTIVE: To study the clinical features of two families with distal renal tubular acidosis (dRTA) and mutations in the pathogenic gene SLC4A1. METHODS: Family investigation, medical history collection, and measurement of biochemical parameters were performed to analyze the clinical phenotype and genetic characteristics of dRTA. Direct sequencing was used to detect SLC4A1 gene mutations. RESULTS: Three patients in these two families (two of them were mother and son) were diagnosed with dRTA with typical clinical features, including short stature, metabolic acidosis, alkaline urine, hypokalemia, and nephrocalcinosis. SLC4A1 gene analysis showed that all the three patients had a pathogenic missense mutation R589H (c.1766G>A). The child in family 1 had a de novo mutation of SLC4A1, and the child in family 2 had an SLC4A1 gene mutation inherited from the mother, which met the characteristic of autosomal dominant inheritance. CONCLUSIONS: This study reports the R589H mutation in SLC4A1 gene in families with hereditary dRTA for the first time in China. Clinical physicians should perform gene detection for patients suspected of hereditary dRTA to improve the diagnosis and treatment of this disease.
[Mh] Termos MeSH primário: Acidose Tubular Renal/genética
Proteína 1 de Troca de Ânion do Eritrócito/genética
Mutação
[Mh] Termos MeSH secundário: Criança
Seres Humanos
Masculino
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Anion Exchange Protein 1, Erythrocyte); 0 (SLC4A1 protein, human)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170801
[Lr] Data última revisão:
170801
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170415
[St] Status:MEDLINE


  5 / 2528 MEDLINE  
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[PMID]:28233610
[Au] Autor:Palazzo V; Provenzano A; Becherucci F; Sansavini G; Mazzinghi B; Orlandini V; Giunti L; Roperto RM; Pantaleo M; Artuso R; Andreucci E; Bargiacchi S; Traficante G; Stagi S; Murer L; Benetti E; Emma F; Giordano M; Rivieri F; Colussi G; Penco S; Manfredini E; Caruso MR; Garavelli L; Andrulli S; Vergine G; Miglietti N; Mancini E; Malaventura C; Percesepe A; Grosso E; Materassi M; Romagnani P; Giglio S
[Ad] Endereço:Department of Biomedical Experimental and Clinical Sciences "Mario Serio", University of Florence, Florence, Italy.
[Ti] Título:The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis.
[So] Source:Kidney Int;91(5):1243-1255, 2017 May.
[Is] ISSN:1523-1755
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Primary distal renal tubular acidosis is a rare genetic disease. Mutations in SLC4A1, ATP6V0A4, and ATP6V1B1 genes have been described as the cause of the disease, transmitted as either an autosomal dominant or recessive trait. Particular clinical features, such as sensorineural hearing loss, have been mainly described in association with mutations in one gene instead of the others. Nevertheless, the diagnosis of distal renal tubular acidosis is essentially based on clinical and laboratory findings, and the series of patients described so far are usually represented by small cohorts. Therefore, a strict genotype-phenotype correlation is still lacking, and questions about whether clinical and laboratory data should direct the genetic analysis remain open. Here, we applied next-generation sequencing in 89 patients with a clinical diagnosis of distal renal tubular acidosis, analyzing the prevalence of genetic defects in SLC4A1, ATP6V0A4, and ATP6V1B1 genes and the clinical phenotype. A genetic cause was determined in 71.9% of cases. In our group of sporadic cases, clinical features, including sensorineural hearing loss, are not specific indicators of the causal underlying gene. Mutations in the ATP6V0A4 gene are quite as frequent as mutations in ATP6V1B1 in patients with recessive disease. Chronic kidney disease was frequent in patients with a long history of the disease. Thus, our results suggest that when distal renal tubular acidosis is suspected, complete genetic testing could be considered, irrespective of the clinical phenotype of the patient.
[Mh] Termos MeSH primário: Acidose Tubular Renal/genética
Proteína 1 de Troca de Ânion do Eritrócito/genética
Doenças Raras/genética
Insuficiência Renal Crônica/genética
ATPases Vacuolares Próton-Translocadoras/genética
[Mh] Termos MeSH secundário: Adolescente
Adulto
Criança
Pré-Escolar
Análise Mutacional de DNA
Feminino
Estudos de Associação Genética
Testes Genéticos
Genótipo
Perda Auditiva Neurossensorial/genética
Sequenciamento de Nucleotídeos em Larga Escala
Seres Humanos
Lactente
Masculino
Meia-Idade
Mutação
Fenótipo
Estudos Retrospectivos
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Anion Exchange Protein 1, Erythrocyte); 0 (SLC4A1 protein, human); EC 3.6.1.- (ATP6V0A4 protein, human); EC 3.6.1.- (Vacuolar Proton-Translocating ATPases); EC 3.6.3.14 (ATP6V1B1 protein, human)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170926
[Lr] Data última revisão:
170926
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170225
[St] Status:MEDLINE


  6 / 2528 MEDLINE  
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[PMID]:28221140
[Au] Autor:Leanez Jiménez M; Candau Vargas-Zúñiga F; Reina Ruiz C
[Ad] Endereço:Unidad de Gestion Clinica de Urología. Hospital Universitario de Valme. Sevilla. España.
[Ti] Título:[Urinary lithiasis as a systemic disease.]
[Ti] Título:La litiasis urinaria como enfermedad sistémica..
[So] Source:Arch Esp Urol;70(1):28-39, 2017 Jan.
[Is] ISSN:0004-0614
[Cp] País de publicação:Spain
[La] Idioma:spa
[Ab] Resumo:Urinary lithiasis is a prevalent disorder of uncertain origin which provokes health problems through potential harm to the urinary system, renal parenchyma or the body as a whole, with a frequent trend to relapse. Historically urinary calculi have been studied and treated as an isolated disease but nowadays we know more about their connection with other pathological entities. In a small percentage of patients, diseases like primary hyperparathyroidism, tubular renal acidosis, inflammatory bowel disease or bariatric surgery have a fairly well studied physiopathological link with kidney stones. However, papers have been published recently describing connections between prevalent diseases such as bone disease or metabolic syndrome and nephrolithiasis. Attempts to prevent or treat these affections can possibly influence the other's prevalence since their trend to increase is clear in western countries.
[Mh] Termos MeSH primário: Nefrolitíase/etiologia
[Mh] Termos MeSH secundário: Acidose Tubular Renal/complicações
Doenças Ósseas/complicações
Seres Humanos
Hiperparatireoidismo/complicações
Síndrome Metabólica/complicações
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1706
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170222
[St] Status:MEDLINE


  7 / 2528 MEDLINE  
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[PMID]:28213045
[Au] Autor:Wu KL; Cheng CJ; Sung CC; Tseng MH; Hsu YJ; Yang SS; Chau T; Lin SH
[Ad] Endereço:Division of Nephrology, Department of Medicine, Tri-Service General Hospital, National Defense Medical Center, Taipei, Taiwan; Department of Medicine, Armed Forces Taoyuan General Hospital, Taoyuan, Taiwan.
[Ti] Título:Identification of the Causes for Chronic Hypokalemia: Importance of Urinary Sodium and Chloride Excretion.
[So] Source:Am J Med;130(7):846-855, 2017 Jul.
[Is] ISSN:1555-7162
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Uncovering the correct diagnosis of chronic hypokalemia with potassium (K ) wasting from the kidneys or gut can be fraught with challenges. We identified clinical and laboratory parameters helpful for differentiating the causes of chronic hypokalemia. METHODS: Normotensive patients referred to our tertiary academic medical center for the evaluation of chronic hypokalemia were prospectively enrolled over 5 years. Clinical features, laboratory examinations-including blood and spot urine electrolytes, acid-base status, biochemistries, and hormones-as well as genetic analysis, were determined. RESULTS: Ninety-nine patients with chronic normotensive hypokalemia (serum K 2.8 ± 0.4 mmol/L, duration 4.1 ± 0.9 years) were enrolled. Neuromuscular symptoms were the most common complaints. Although Gitelman syndrome (n = 33), Bartter syndrome (n = 10), and distal renal tubular acidosis (n = 12) were the predominant renal tubular disorders, 44 patients (44%) were diagnosed with anorexia/bulimia nervosa (n = 21), surreptitious use of laxatives (n = 11), or diuretics (n = 12). Patients with gastrointestinal causes and surreptitious diuretics use exhibited a female predominance, lower body mass index, and less K supplementation. High urine K excretion (transtubular potassium gradient >3, urine K /Cr >2 mmol/mmol) was universally present in patients with renal tubular disorders, but also found in >50% patients with gastrointestinal causes. Of interest, while urine sodium (Na ) and chloride (Cl ) excretions were high and coupled (urine Na /Cl ratio ∼1) in renal tubular disorders and "on" diuretics use, skewed or uncoupled urine Na and Cl excretions were found in anorexia/bulimia nervosa and laxatives abuse (urine Na /Cl ratio: 5.0 ± 2.2, 0.4 ± 0.2, respectively) and low urine Na and Cl excretions with fixed Na /Cl ratios (0.9 ± 0.2) when "off" diuretics. CONCLUSION: Besides body mass index, sex, and blood acid-base status, integrated interpretation of the urine Na :Cl excretion and their ratio is important to make an accurate diagnosis and treatment plan for patients with chronic normotensive hypokalemia.
[Mh] Termos MeSH primário: Hipopotassemia/etiologia
[Mh] Termos MeSH secundário: Acidose Tubular Renal/complicações
Acidose Tubular Renal/diagnóstico
Adulto
Anorexia Nervosa/complicações
Anorexia Nervosa/diagnóstico
Síndrome de Bartter/complicações
Síndrome de Bartter/diagnóstico
Índice de Massa Corporal
Bulimia/complicações
Bulimia/diagnóstico
Cloretos/urina
Doença Crônica
Diuréticos/efeitos adversos
Feminino
Síndrome de Gitelman/complicações
Síndrome de Gitelman/diagnóstico
Seres Humanos
Hipopotassemia/urina
Laxantes/efeitos adversos
Masculino
Estudos Prospectivos
Fatores Sexuais
Sódio/urina
Transtornos Relacionados ao Uso de Substâncias/complicações
Transtornos Relacionados ao Uso de Substâncias/diagnóstico
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Chlorides); 0 (Diuretics); 0 (Laxatives); 9NEZ333N27 (Sodium)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170803
[Lr] Data última revisão:
170803
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170219
[St] Status:MEDLINE


  8 / 2528 MEDLINE  
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[PMID]:27966241
[Au] Autor:Lin W; Mou L; Tu H; Zhu L; Wang J; Chen J; Hu Y
[Ad] Endereço:Department of Nephrology, The Second Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, Zhejiang, China.
[Ti] Título:Clinical analysis of hyperkalemic renal tubular acidosis caused by calcineurin inhibitors in solid organ transplant recipients.
[So] Source:J Clin Pharm Ther;42(1):122-124, 2017 Feb.
[Is] ISSN:1365-2710
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:WHAT IS KNOWN AND OBJECTIVE: Calcineurin inhibitor (CNI)-based immunosuppressive regimen is widely used for preventing rejection in solid organ transplantation. Hyperkalemic renal tubular acidosis (RTA) caused by CNI is uncommon and potentially underappreciated. We reported four such cases to increase awareness of this risk and to provide recommendations for its management based on our experience. CASE SUMMARY: Four middle-aged males underwent solid organ transplant (two kidneys, one liver, one heart) and were treated with CNI-based immunosuppressive regimen (one cyclosporine A, three tacrolimus). On post-operative day 13-35, hyperkalemic hyperchloremic non-gap metabolic acidosis developed. All patients had relatively preserved renal function, normal urine output and plasma aldosterone level. Reduction in CNI dosage was partly effective; the patient on cyclosporine A was treated with fludrocortisone, and two others temporarily switched to sirolimus (SRL). WHAT IS NEW AND CONCLUSION: We should alert for CNI-induced hyperkalemic RTA in transplant recipients. By CNI dosage reduction or adding low dose fludrocortisone, or temporarily switching to SRL, the prognosis of CNI-induced hyperkalemic RTA is favourable.
[Mh] Termos MeSH primário: Acidose Tubular Renal/induzido quimicamente
Inibidores de Calcineurina/efeitos adversos
Imunossupressores/efeitos adversos
[Mh] Termos MeSH secundário: Inibidores de Calcineurina/uso terapêutico
Seres Humanos
Imunossupressores/uso terapêutico
Transplante de Rim/métodos
Masculino
Meia-Idade
Transplantados
[Pt] Tipo de publicação:CASE REPORTS
[Nm] Nome de substância:
0 (Calcineurin Inhibitors); 0 (Immunosuppressive Agents)
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170517
[Lr] Data última revisão:
170517
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161215
[St] Status:MEDLINE
[do] DOI:10.1111/jcpt.12485


  9 / 2528 MEDLINE  
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[PMID]:27932475
[Au] Autor:Mumtaz R; Trepiccione F; Hennings JC; Huebner AK; Serbin B; Picard N; Ullah AKMS; Paunescu TG; Capen DE; Lashhab RM; Mouro-Chanteloup I; Alper SL; Wagner CA; Cordat E; Brown D; Eladari D; Hübner CA
[Ad] Endereço:Institute of Human Genetics, Jena University Hospital, Friedrich Schiller University, Jena, Germany.
[Ti] Título:Intercalated Cell Depletion and Vacuolar H -ATPase Mistargeting in an Ae1 R607H Knockin Model.
[So] Source:J Am Soc Nephrol;28(5):1507-1520, 2017 May.
[Is] ISSN:1533-3450
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Distal nephron acid secretion is mediated by highly specialized type A intercalated cells (A-ICs), which contain vacuolar H -ATPase (V-type ATPase)-rich vesicles that fuse with the apical plasma membrane on demand. Intracellular bicarbonate generated by luminal H secretion is removed by the basolateral anion-exchanger AE1. Chronically reduced renal acid excretion in distal renal tubular acidosis (dRTA) may lead to nephrocalcinosis and renal failure. Studies in MDCK monolayers led to the proposal of a dominant-negative trafficking mechanism to explain AE1-associated dominant dRTA. To test this hypothesis , we generated an Ae1 R607H knockin mouse, which corresponds to the most common dominant dRTA mutation in human AE1, R589H. Compared with wild-type mice, heterozygous and homozygous R607H knockin mice displayed incomplete dRTA characterized by compensatory upregulation of the Na /HCO cotransporter NBCn1. Red blood cell Ae1-mediated anion-exchange activity and surface polypeptide expression did not change. Mutant mice expressed far less Ae1 in A-ICs, but basolateral targeting of the mutant protein was preserved. Notably, mutant mice also exhibited reduced expression of V-type ATPase and compromised targeting of this proton pump to the plasma membrane upon acid challenge. Accumulation of p62- and ubiquitin-positive material in A-ICs of knockin mice suggested a defect in the degradative pathway, which may explain the observed loss of A-ICs. R607H knockin did not affect type B intercalated cells. We propose that reduced basolateral anion-exchange activity in A-ICs inhibits trafficking and regulation of V-type ATPase, compromising luminal H secretion and possibly lysosomal acidification.
[Mh] Termos MeSH primário: Acidose Tubular Renal/enzimologia
Proteína 1 de Troca de Ânion do Eritrócito/fisiologia
Túbulos Renais Coletores/citologia
Túbulos Renais Coletores/enzimologia
ATPases Vacuolares Próton-Translocadoras/fisiologia
[Mh] Termos MeSH secundário: Animais
Proteína 1 de Troca de Ânion do Eritrócito/genética
Masculino
Camundongos
Modelos Biológicos
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Anion Exchange Protein 1, Erythrocyte); EC 3.6.1.- (Vacuolar Proton-Translocating ATPases)
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170531
[Lr] Data última revisão:
170531
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161210
[St] Status:MEDLINE
[do] DOI:10.1681/ASN.2016020169


  10 / 2528 MEDLINE  
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[PMID]:27718309
[Au] Autor:Kager L; Bruce LJ; Zeitlhofer P; Flatt JF; Maia TM; Ribeiro ML; Fahrner B; Fritsch G; Boztug K; Haas OA
[Ad] Endereço:Department of Pediatrics and Adolescent Medicine, St. Anna Children's Hospital, Medical University Vienna, Vienna, Austria.
[Ti] Título:Band 3 null , a novel homozygous SLC4A1 p.Ser477X variant causing severe hemolytic anemia, dyserythropoiesis and complete distal renal tubular acidosis.
[So] Source:Pediatr Blood Cancer;64(3), 2017 Mar.
[Is] ISSN:1545-5017
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:We describe the second patient with anionic exchanger 1/band 3 null phenotype (band 3 null ), which was caused by a novel nonsense mutation c.1430C>A (p.Ser477X) in exon 12 of SLC4A1. We also update on the previous band 3 null patient, thereby elucidating the physiological implications of total loss of AE1/band 3. Besides transfusion-dependent severe hemolytic anemia and complete distal renal tubular acidosis, dyserythropoiesis was identified in the band 3 null patient, suggesting a role for band 3 in erythropoiesis. Moreover, we also, for the first time, report that long-term survival is possible in band 3 null patients.
[Mh] Termos MeSH primário: Acidose Tubular Renal/etiologia
Anemia Hemolítica/etiologia
Proteína 1 de Troca de Ânion do Eritrócito/genética
Códon sem Sentido/genética
Eritrócitos Anormais/patologia
[Mh] Termos MeSH secundário: Acidose Tubular Renal/patologia
Anemia Hemolítica/patologia
Pré-Escolar
Eritropoese
Homozigoto
Seres Humanos
Masculino
Prognóstico
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Anion Exchange Protein 1, Erythrocyte); 0 (Codon, Nonsense); 0 (SLC4A1 protein, human)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170621
[Lr] Data última revisão:
170621
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161009
[St] Status:MEDLINE
[do] DOI:10.1002/pbc.26227



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