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Distal renal tubular acidosis:genetic causes and management

World Journal of Pediatrics 2019年第5期15卷 422-431页

作者： s.lvia bouissou morais soares Luiz Alberto Wanderley de Menezes silva Flávia Cristina de Carvalho Mrad Ana Cristina simoes e silva Interdisciplinary Laboratory of Medical Investigation Faculty of MedicineFederal University of Minas Gerais(UFMG)Av.Prof.Alfredo Balena190Room#281Belo HorizonteMG 30130-100Brazil Pediatric Nephrology Unit Faculty of MedicineUFMGBelo HorizonteBrazil

Background Distal renal tubular acidosis(dRTA)is a kidney tubulopathy that causes a state of normal anion gap metabolic acidosis due to impairment of urine *** review aims to summarize the etiology,pathophysiology,clinical findings,diagnosis and therapeutic approach of dRTA,with emphasis on genetic causes of *** sources Literature reviews and original research articles from databases,including PubMed and Google *** searching was performed to identify additional studies about *** dRTA is characterized as the dysfunction of the distal urinary acidification,leading to metabolic *** pediatric patients,the most frequent etiology of dRTA is the genetic alteration of genes responsible for the codification of distal tubule channels,whereas,in adult patients,dRTA is more commonly secondary to autoimmune diseases,use of medications and *** with dRTA exhibit failure to thrive and important laboratory alterations,which are used to define the *** oral alkali and potassium supplementation can correct the biochemical defects,improve clinical manifestations and avoid nephrolithiasis and *** dRTA is a multifactorial disease leading to several clinical *** and laboratory alterations can be corrected by alkali replacement therapy.

关键词： Renal tubular acidosis Distal tubule physiology Metabolic acidosis Gene mutations Proton pump

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Bartter's syndrome:clinical findings,genetic causes and therapeutic approach

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World Journal of Pediatrics 2021年第1期17卷 31-39页

作者： Flavia Cristina Carvalho Mrad s.lvia bouissou morais soares Luiz Alberto Wanderley de Menezes silva Pedro Versiani dos Anjos Menezes Ana Cristina simoes-e-silva Interdisciplinary Laboratory of Medical Investigation Faculty of MedicineFederal University of Minas Gerais(UFMG)Av.Alfredo Balena190Room#281Belo HorizonteMG 30130-100Brazil Pediatric Nephrology Unit Faculty of MedicineUFMGBelo HorizonteBrazil

Backgound Bartter's syndrome(Bs)is a rare group of salt losing tubulopathies due to the impairment of transport mecha-nisms at the thick ascending limb of the Henle's *** sources Literature reviews and original research articles were collected from database,including PubMed and *** According to the time of onset and symptoms,Bs can be classified into antenatal and classic *** studies have identified different subtypes of *** types Ⅰ,Ⅱ and Ⅲ are caused by mutations on genes encoding the luminal Na^(+)-K^(+)-2Cl^(-) co-transporter,the luminal K+ channel ROMK,and the basolateral chloride channel ClC-Kb(CLCNKB),***-of-function mutations of Barttin CLCNK type accessory beta subunit cause Bs type Ⅳ*** mutations of CLCNKB and CLCNKA cause Bs type Ⅳ*** type Ⅴ consists in a novel transient form characterized by antenatal presentation due to mutations in the MAGE family member *** gain-of-function mutations of the extracellular calcium sensing receptor gene can result in an autosomal dominant condition of *** clinical and biochemical alterations in Bs include polyuria,dehydration,hypokalemia,hypochloremic metabolic alka-losis,hyperreninemia,high levels of prostaglandins,normal or low blood pressure,hypercalciuria and failure to *** focuses mainly at correcting dehydration and electrolyte disturbances and in measures to reduce polyuria,including the use of nonsteroidal anti-inflammatory medications to control excessive renal prostaglandin E2 *** Early diagnosis and treatment of Bs may prevent long-term consequences such as growth failure,nephrocal-cinosis and end-stage renal disease.

关键词： Bartter's syndrome Hypercalciuria Hypokalemia Metabolic alkalosis Nephrocalcinosis

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Human seroreactivity to secreted Molecules of Corynebacterium pseudotuberculosis

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Advances in Microbiology 2022年第3期12卷 150-158页

作者： Ramon Mendes dos santos silvânia Maria Andrade Cerqueira Caio Lopez Borge Andrade Gabriel saldanha Müller Vitória Costa de Menezes santos Hévlyn Ribeiro de Araújo samanta Queiroz Rogério Reis Conceição Luiz Gustavo Freitas Oliveira Marcos Borges Ribeiro silvana Marchioro Lilia Ferreira de Moura-Costa Fúlvia soares Campos de sousa Maria da Conceição Aquino de sá José Tadeu Raynal Rocha Filho soraya Castro Trindade Eduardo Martins Netto Roberto Meyer songelí Menezes Freire Laboratory of Immunology and Molecular Biology of the Health sciences Institute of the Federal University of Bahia Bahia Brazil specialized Hospital Otávio Mangabeira Bahia Brazil Microbiology of the Federal University of Bahia Bahia Brazil Laboratory of Infectology of the University Hospital Complex Professor Edgard santos Salvador Bahia Brazil

Corynebacterium pseudotuberculosis is an infectious agent that occurs in small ruminants causing caseous lymphadenitis, and more rarely in humans causing lymphadenitis and pneumonia. The breeding small ruminants have great economic importance in Brazil. Rural farm workers and veterinary students who acquired this disease suffered from weakening symptoms for weeks, and the identification of the etiological agent was time-consuming and complex. Due to the low prevalence of case records, there is probably no available commercial diagnostic kit for C. pseudotuberculosis infection in humans. This study aimed to describe human seroreactivity to secreted antigens from C. pseudotuberculosis. Reactivity of serum from farm workers (n = 14), individuals who work with the bacillus at laboratory (n = 8) or individuals without contact (n = 25) was tested with secreted proteins from PAT10 strain of C. pseudotuberculosis by Western blotting. samples of all (100%) farm workers showed reactivity to 31 kDa, 71 kDa and 164 kDa proteins, while laboratory workers showed 87.5%, 62.5 % and 37.5%, and no-contact 20%, 0% and 16%, respectively. All sera recognized the 275 kDa protein. Our data suggest that C. pseudotuberculosis secreted proteins are antigenic in humans and the recognition profiles allowed the identification of individuals with and without prior contact with this bacillus. This is the first paper which describes human reactivity to C. pseudotuberculosis in serum samples of workers in Brazil.

关键词： Human Immunoreactivity Antigenicity Corynebacterium pseudotuberculosis secreted Proteins Western Blot

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