Novel mutations associated with nephrogenic diabetes insipidus. A clinical-genetic study
Molecular diagnosis is a useful diagnostic tool in primary nephrogenic diabetes insipidus (NDI), an inherited disease characterized by renal inability to concentrate urine. The AVPR2 and AQP2 genes were screened for mutations in a cohort of 25 patients with clinical diagnosis of NDI. Patients presen...
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| author | RenalTube Group Alejandro García‐Castaño Gustavo Pérez de Nanclares Leire Madariaga Mireia Aguirre Sara Chocrón A. Madrid Francisco Javier Lafita Tejedor Mercedes Gil‐Campos Jaime Sánchez del Pozo Rafael Ruiz Cano Mar Espino José María Gómez Vida Fernando Santos Víctor Manuel García Nieto Reyner Loza Luis Miguel Espinosa Rodríguez Emilia Hidalgo Barquero Nikoleta Printza Juan Antonio Camacho Luís Castaño Gema Ariceta |
| author_browse | A. Madrid Alejandro García‐Castaño Emilia Hidalgo Barquero Fernando Santos Francisco Javier Lafita Tejedor Gema Ariceta Gustavo Pérez de Nanclares Jaime Sánchez del Pozo José María Gómez Vida Juan Antonio Camacho Leire Madariaga Luis Miguel Espinosa Rodríguez Luís Castaño Mar Espino Mercedes Gil‐Campos Mireia Aguirre Nikoleta Printza Rafael Ruiz Cano RenalTube Group Reyner Loza Sara Chocrón Víctor Manuel García Nieto |
| author_facet | RenalTube Group Alejandro García‐Castaño Gustavo Pérez de Nanclares Leire Madariaga Mireia Aguirre Sara Chocrón A. Madrid Francisco Javier Lafita Tejedor Mercedes Gil‐Campos Jaime Sánchez del Pozo Rafael Ruiz Cano Mar Espino José María Gómez Vida Fernando Santos Víctor Manuel García Nieto Reyner Loza Luis Miguel Espinosa Rodríguez Emilia Hidalgo Barquero Nikoleta Printza Juan Antonio Camacho Luís Castaño Gema Ariceta |
| author_sort | RenalTube Group |
| collection | Producción científica |
| description | Molecular diagnosis is a useful diagnostic tool in primary nephrogenic diabetes insipidus (NDI), an inherited disease characterized by renal inability to concentrate urine. The AVPR2 and AQP2 genes were screened for mutations in a cohort of 25 patients with clinical diagnosis of NDI. Patients presented with dehydration, polyuria-polydipsia, failure to thrive (mean ± SD; Z-height −1.9 ± 2.1 and Z-weight −2.4 ± 1.7), severe hypernatremia (mean ± SD; Na 150 ± 10 mEq/L), increased plasma osmolality (mean ± SD; 311 ± 18 mOsm/Kg), but normal glomerular filtration rate. Genetic diagnosis revealed that 24 male patients were hemizygous for 17 different putative disease-causing mutations in the AVPR2 gene (each one in a different family). Of those, nine had not been previously reported, and eight were recurrent. Moreover, we found those same AVPR2 changes in 12 relatives who were heterozygous carriers. Further, in one female patient, AVPR2 gene study turned out to be negative and she was found to be homozygous for the novel AQP2 p.Ala86Val alteration. Conclusion: Genetic analysis presumably confirmed the diagnosis of nephrogenic diabetes insipidus in every patient of the studied cohort. We emphasize that we detected a high presence (50 %) of heterozygous females with clinical NDI symptoms. |
| format | Article |
| id | oai:cris.upeu.edu.pe:20.500.15037/1591 |
| institution | UPeU |
| language | English |
| publishDate | 2015 |
| publishDateRange | 2015 |
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| spelling | oai:cris.upeu.edu.pe:20.500.15037/15912026-11-02T22:34:06ZNovel mutations associated with nephrogenic diabetes insipidus. A clinical-genetic studyRenalTube GroupAlejandro García‐CastañoGustavo Pérez de NanclaresLeire MadariagaMireia AguirreSara ChocrónA. MadridFrancisco Javier Lafita TejedorMercedes Gil‐CamposJaime Sánchez del PozoRafael Ruiz CanoMar EspinoJosé María Gómez VidaFernando SantosVíctor Manuel García NietoReyner LozaLuis Miguel Espinosa RodríguezEmilia Hidalgo BarqueroNikoleta PrintzaJuan Antonio CamachoLuís CastañoGema AricetaNephrogenic diabetes insipidusPolyuriaMedicineAquaporin 2PolydipsiaInternal medicineDiabetes insipidusUrine osmolalityEndocrinologyCohortHypernatremiaFailure to thriveDiabetes mellitusPediatricsUrinary systemGastroenterologySodiumEngineeringInletMechanical engineeringOrganic chemistryChemistryWater channelNephrogenic diabetes insipidusPolyuriaMedicineAquaporin 2PolydipsiaInternal medicineDiabetes insipidusUrine osmolalityEndocrinologyCohortHypernatremiaFailure to thriveDiabetes mellitusPediatricsUrinary systemGastroenterologyChildChildChildChild, PreschoolChild, PreschoolChild, PreschoolDNA geneticsDNA geneticsDNA geneticsDNA Mutational AnalysisDNA Mutational AnalysisDNA Mutational AnalysisFemaleFemaleFemaleGenetic TestingGenetic TestingGenetic TestingHumansHumansHumansInfantInfantInfantInfant, NewbornInfant, NewbornInfant, NewbornMaleMaleMaleMutationMutationMutationPedigreePedigreePedigreeDiabetes Insipidus, Nephrogenic diagnosisDiabetes Insipidus, Nephrogenic diagnosisDiabetes Insipidus, Nephrogenic diagnosisDiabetes Insipidus, Nephrogenic geneticsDiabetes Insipidus, Nephrogenic geneticsDiabetes Insipidus, Nephrogenic geneticsDiabetes Insipidus, Nephrogenic metabolismDiabetes Insipidus, Nephrogenic metabolismDiabetes Insipidus, Nephrogenic metabolismGenetic Predisposition to DiseaseGenetic Predisposition to DiseaseGenetic Predisposition to DiseaseAquaporin 2 geneticsAquaporin 2 geneticsAquaporin 2 geneticsAquaporin 2 metabolismAquaporin 2 metabolismAquaporin 2 metabolismLife Sciences Biochemistry, Genetics and Molecular Biology Molecular Biology Ion Transport and Channel RegulationLife Sciences Biochemistry, Genetics and Molecular Biology Molecular Biology Renal and related cancersHealth Sciences Medicine Pulmonary and Respiratory Medicine Electrolyte and hormonal disordersMolecular diagnosis is a useful diagnostic tool in primary nephrogenic diabetes insipidus (NDI), an inherited disease characterized by renal inability to concentrate urine. The AVPR2 and AQP2 genes were screened for mutations in a cohort of 25 patients with clinical diagnosis of NDI. Patients presented with dehydration, polyuria-polydipsia, failure to thrive (mean ± SD; Z-height −1.9 ± 2.1 and Z-weight −2.4 ± 1.7), severe hypernatremia (mean ± SD; Na 150 ± 10 mEq/L), increased plasma osmolality (mean ± SD; 311 ± 18 mOsm/Kg), but normal glomerular filtration rate. Genetic diagnosis revealed that 24 male patients were hemizygous for 17 different putative disease-causing mutations in the AVPR2 gene (each one in a different family). Of those, nine had not been previously reported, and eight were recurrent. Moreover, we found those same AVPR2 changes in 12 relatives who were heterozygous carriers. Further, in one female patient, AVPR2 gene study turned out to be negative and she was found to be homozygous for the novel AQP2 p.Ala86Val alteration. Conclusion: Genetic analysis presumably confirmed the diagnosis of nephrogenic diabetes insipidus in every patient of the studied cohort. We emphasize that we detected a high presence (50 %) of heterozygous females with clinical NDI symptoms.Articlehttps://pubmed.ncbi.nlm.nih.gov/25902753http://hdl.handle.net/10651/3339110.1007/s00431-015-2534-4https://hdl.handle.net/20.500.15037/1591W1993567031enEuropean Journal of Pediatrics0340-61991432-10762015-04-212026-06-13T14:15:09Z2026-06-13T14:15:09Z |
| spellingShingle | Nephrogenic diabetes insipidus Polyuria Medicine Aquaporin 2 Polydipsia Internal medicine Diabetes insipidus Urine osmolality Endocrinology Cohort Hypernatremia Failure to thrive Diabetes mellitus Pediatrics Urinary system Gastroenterology Sodium Engineering Inlet Mechanical engineering Organic chemistry Chemistry Water channel Nephrogenic diabetes insipidus Polyuria Medicine Aquaporin 2 Polydipsia Internal medicine Diabetes insipidus Urine osmolality Endocrinology Cohort Hypernatremia Failure to thrive Diabetes mellitus Pediatrics Urinary system Gastroenterology Child Child Child Child, Preschool Child, Preschool Child, Preschool DNA genetics DNA genetics DNA genetics DNA Mutational Analysis DNA Mutational Analysis DNA Mutational Analysis Female Female Female Genetic Testing Genetic Testing Genetic Testing Humans Humans Humans Infant Infant Infant Infant, Newborn Infant, Newborn Infant, Newborn Male Male Male Mutation Mutation Mutation Pedigree Pedigree Pedigree Diabetes Insipidus, Nephrogenic diagnosis Diabetes Insipidus, Nephrogenic diagnosis Diabetes Insipidus, Nephrogenic diagnosis Diabetes Insipidus, Nephrogenic genetics Diabetes Insipidus, Nephrogenic genetics Diabetes Insipidus, Nephrogenic genetics Diabetes Insipidus, Nephrogenic metabolism Diabetes Insipidus, Nephrogenic metabolism Diabetes Insipidus, Nephrogenic metabolism Genetic Predisposition to Disease Genetic Predisposition to Disease Genetic Predisposition to Disease Aquaporin 2 genetics Aquaporin 2 genetics Aquaporin 2 genetics Aquaporin 2 metabolism Aquaporin 2 metabolism Aquaporin 2 metabolism Life Sciences Biochemistry, Genetics and Molecular Biology Molecular Biology Ion Transport and Channel Regulation Life Sciences Biochemistry, Genetics and Molecular Biology Molecular Biology Renal and related cancers Health Sciences Medicine Pulmonary and Respiratory Medicine Electrolyte and hormonal disorders RenalTube Group Alejandro García‐Castaño Gustavo Pérez de Nanclares Leire Madariaga Mireia Aguirre Sara Chocrón A. Madrid Francisco Javier Lafita Tejedor Mercedes Gil‐Campos Jaime Sánchez del Pozo Rafael Ruiz Cano Mar Espino José María Gómez Vida Fernando Santos Víctor Manuel García Nieto Reyner Loza Luis Miguel Espinosa Rodríguez Emilia Hidalgo Barquero Nikoleta Printza Juan Antonio Camacho Luís Castaño Gema Ariceta Novel mutations associated with nephrogenic diabetes insipidus. A clinical-genetic study |
| title | Novel mutations associated with nephrogenic diabetes insipidus. A clinical-genetic study |
| title_full | Novel mutations associated with nephrogenic diabetes insipidus. A clinical-genetic study |
| title_fullStr | Novel mutations associated with nephrogenic diabetes insipidus. A clinical-genetic study |
| title_full_unstemmed | Novel mutations associated with nephrogenic diabetes insipidus. A clinical-genetic study |
| title_short | Novel mutations associated with nephrogenic diabetes insipidus. A clinical-genetic study |
| title_sort | novel mutations associated with nephrogenic diabetes insipidus a clinical genetic study |
| topic | Nephrogenic diabetes insipidus Polyuria Medicine Aquaporin 2 Polydipsia Internal medicine Diabetes insipidus Urine osmolality Endocrinology Cohort Hypernatremia Failure to thrive Diabetes mellitus Pediatrics Urinary system Gastroenterology Sodium Engineering Inlet Mechanical engineering Organic chemistry Chemistry Water channel Nephrogenic diabetes insipidus Polyuria Medicine Aquaporin 2 Polydipsia Internal medicine Diabetes insipidus Urine osmolality Endocrinology Cohort Hypernatremia Failure to thrive Diabetes mellitus Pediatrics Urinary system Gastroenterology Child Child Child Child, Preschool Child, Preschool Child, Preschool DNA genetics DNA genetics DNA genetics DNA Mutational Analysis DNA Mutational Analysis DNA Mutational Analysis Female Female Female Genetic Testing Genetic Testing Genetic Testing Humans Humans Humans Infant Infant Infant Infant, Newborn Infant, Newborn Infant, Newborn Male Male Male Mutation Mutation Mutation Pedigree Pedigree Pedigree Diabetes Insipidus, Nephrogenic diagnosis Diabetes Insipidus, Nephrogenic diagnosis Diabetes Insipidus, Nephrogenic diagnosis Diabetes Insipidus, Nephrogenic genetics Diabetes Insipidus, Nephrogenic genetics Diabetes Insipidus, Nephrogenic genetics Diabetes Insipidus, Nephrogenic metabolism Diabetes Insipidus, Nephrogenic metabolism Diabetes Insipidus, Nephrogenic metabolism Genetic Predisposition to Disease Genetic Predisposition to Disease Genetic Predisposition to Disease Aquaporin 2 genetics Aquaporin 2 genetics Aquaporin 2 genetics Aquaporin 2 metabolism Aquaporin 2 metabolism Aquaporin 2 metabolism Life Sciences Biochemistry, Genetics and Molecular Biology Molecular Biology Ion Transport and Channel Regulation Life Sciences Biochemistry, Genetics and Molecular Biology Molecular Biology Renal and related cancers Health Sciences Medicine Pulmonary and Respiratory Medicine Electrolyte and hormonal disorders |
| topic_facet | Nephrogenic diabetes insipidus Polyuria Medicine Aquaporin 2 Polydipsia Internal medicine Diabetes insipidus Urine osmolality Endocrinology Cohort Hypernatremia Failure to thrive Diabetes mellitus Pediatrics Urinary system Gastroenterology Sodium Engineering Inlet Mechanical engineering Organic chemistry Chemistry Water channel Nephrogenic diabetes insipidus Polyuria Medicine Aquaporin 2 Polydipsia Internal medicine Diabetes insipidus Urine osmolality Endocrinology Cohort Hypernatremia Failure to thrive Diabetes mellitus Pediatrics Urinary system Gastroenterology Child Child Child Child, Preschool Child, Preschool Child, Preschool DNA genetics DNA genetics DNA genetics DNA Mutational Analysis DNA Mutational Analysis DNA Mutational Analysis Female Female Female Genetic Testing Genetic Testing Genetic Testing Humans Humans Humans Infant Infant Infant Infant, Newborn Infant, Newborn Infant, Newborn Male Male Male Mutation Mutation Mutation Pedigree Pedigree Pedigree Diabetes Insipidus, Nephrogenic diagnosis Diabetes Insipidus, Nephrogenic diagnosis Diabetes Insipidus, Nephrogenic diagnosis Diabetes Insipidus, Nephrogenic genetics Diabetes Insipidus, Nephrogenic genetics Diabetes Insipidus, Nephrogenic genetics Diabetes Insipidus, Nephrogenic metabolism Diabetes Insipidus, Nephrogenic metabolism Diabetes Insipidus, Nephrogenic metabolism Genetic Predisposition to Disease Genetic Predisposition to Disease Genetic Predisposition to Disease Aquaporin 2 genetics Aquaporin 2 genetics Aquaporin 2 genetics Aquaporin 2 metabolism Aquaporin 2 metabolism Aquaporin 2 metabolism Life Sciences Biochemistry, Genetics and Molecular Biology Molecular Biology Ion Transport and Channel Regulation Life Sciences Biochemistry, Genetics and Molecular Biology Molecular Biology Renal and related cancers Health Sciences Medicine Pulmonary and Respiratory Medicine Electrolyte and hormonal disorders |
| url | https://pubmed.ncbi.nlm.nih.gov/25902753 http://hdl.handle.net/10651/33391 https://hdl.handle.net/20.500.15037/1591 |
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