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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Autores principales: 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
Formato: Artículo
Lenguaje:inglés
Publicado: 2015
Materias:
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
Child
Child, Preschool
DNA genetics
DNA Mutational Analysis
Female
Genetic Testing
Humans
Infant
Infant, Newborn
Male
Mutation
Pedigree
Diabetes Insipidus, Nephrogenic diagnosis
Diabetes Insipidus, Nephrogenic genetics
Diabetes Insipidus, Nephrogenic metabolism
Genetic Predisposition to Disease
Aquaporin 2 genetics
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
Acceso en línea:Ver en el sistema de origen
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Sumario: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.

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