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1. Poor phenotype-genotype association in a large series of patients with Type III Bartter syndrome.

Author

García Castaño A, Pérez de Nanclares G, Madariaga L, Aguirre M, Madrid Á, Chocrón S, Nadal I, Navarro M, Lucas E, Fijo J, Espino M, Espitaletta Z, García Nieto V, Barajas de Frutos D, Loza R, Pintos G, Castaño L, and Ariceta G

Subjects
Child, Preschool, Female, Humans, Infant, Male, Bartter Syndrome genetics, Genotype, Phenotype
Abstract

Introduction: Type III Bartter syndrome (BS) is an autosomal recessive renal tubule disorder caused by loss-of-function mutations in the CLCNKB gene, which encodes the chloride channel protein ClC-Kb. In this study, we carried out a complete clinical and genetic characterization in a cohort of 30 patients, one of the largest series described. By comparing with other published populations, and considering that 80% of our patients presented the p.Ala204Thr Spanish founder mutation presumably associated with a common phenotype, we aimed to test the hypothesis that allelic differences could explain the wide phenotypic variability observed in patients with type III BS., Methods: Clinical data were retrieved from the referral centers. The exon regions and flanking intronic sequences of the CLCNKB gene were screened for mutations by polymerase chain reaction (PCR) followed by direct Sanger sequencing. Presence of gross deletions or duplications in the region was checked for by MLPA and QMPSF analyses., Results: Polyuria, polydipsia and dehydration were the main common symptoms. Metabolic alkalosis and hypokalemia of renal origin were detected in all patients at diagnosis. Calciuria levels were variable: hypercalciuria was detected in 31% of patients, while 23% had hypocalciuria. Nephrocalcinosis was diagnosed in 20% of the cohort. Two novel CLCNKB mutations were identified: a small homozygous deletion (c.753delG) in one patient and a small deletion (c.1026delC) in another. The latter was present in compound heterozygosis with the already previously described p.Glu442Gly mutation. No phenotypic association was obtained regarding the genotype., Conclusion: A poor correlation was found between a specific type of mutation in the CLCNKB gene and type III BS phenotype. Importantly, two CLCNKB mutations not previously described were found in our cohort.

Published
2017
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2. Poor phenotype-genotype association in a large series of patients with Type III Bartter syndrome

Author

Blanco, Francisco J., García Castaño, Alejandro, Pérez de Nanclares, Gustavo, Madariaga Domínguez, Leire, Aguirre, Mireia, Madrid, Álvaro, Chocrón, Sara, Nadal, Inmaculada, Navarro, Mercedes, Lucas, Elena, Fijo, Julia, Espino, Mar, Espitaletta, Zilac, García Nieto, Víctor, Barajas de Frutos, David, Loza, Reyner, Pintos, Guillem, Castaño González, Luis Antonio, RenalTube Group, Ariceta, Gema, [Garcia Castano, Alejandro] Cruces Univ Hosp, Ciberer, BioCruces Hlth Res Inst, Bizkaia, Spain, [Perez de Nanclares, Gustavo] Cruces Univ Hosp, Ciberer, BioCruces Hlth Res Inst, Bizkaia, Spain, [Castano, Luis] Cruces Univ Hosp, Ciberer, BioCruces Hlth Res Inst, Bizkaia, Spain, [Madariaga, Leire] Cruces Univ Hosp, Pediat Nephrol, Bizkaia, Spain, [Aguirre, Mireia] Cruces Univ Hosp, Pediat Nephrol, Bizkaia, Spain, [Madariaga, Leire] Univ Basque Country, UPV EHU, Dept Pediat, Sch Med & Odontol, Bizkaia, Spain, [Castano, Luis] Univ Basque Country, UPV EHU, Dept Pediat, Sch Med & Odontol, Bizkaia, Spain, [Madrid, Alvaro] Univ Autonoma Barcelona, Vall dHebron Univ Hosp, Pediat Nephrol, Barcelona, Spain, [Chocron, Sara] Univ Autonoma Barcelona, Vall dHebron Univ Hosp, Pediat Nephrol, Barcelona, Spain, [Ariceta, Gema] Univ Autonoma Barcelona, Vall dHebron Univ Hosp, Pediat Nephrol, Barcelona, Spain, [Nadal, Inmaculada] Virgen del Camino Hosp, Pediat Nephrol, Pamplona, Spain, [Navarro, Mercedes] La Paz Univ Hosp, Pediat Nephrol, Madrid, Spain, [Lucas, Elena] Manises Hosp, Pediat, Valencia, Spain, [Fijo, Julia] Virgen del Rocio Hosp, Pediat Nephrol, Seville, Spain, [Espino, Mar] Fdn Alcorcon Univ Hosp, Pediat Nephrol, Madrid, Spain, [Espitaletta, Zilac] San Ignacio Univ Hosp, Bogota, Colombia, [Garcia Nieto, Victor] Nuestra Senora de Candelaria Univ Hosp, Pediat Nephrol, Tenerife, Canarias, Spain, [Barajas de Frutos, David] Virgen de las Nieves Hosp, Pediat Nephrol, Granada, Spain, [Loza, Reyner] Cayetano Heredia Univ, Cayetano Heredia Hosp, Nephrol Unit, Lima, Peru, [Pintos, Guillem] Germans Trias & Pujol Univ Hosp, Badalona, Spain, [Castano, Luis] Inst Salud Carlos III, Ctr Invest Biomed Red Diabet & Enfermedades Metab, Madrid, Spain, [RenalTube Grp] Asturias Cent Univ Hosp, Pediat Nephrol, Oviedo, Asturias, Spain, FIS of the Institute de Salud Carlos III, Madrid, Spain, Department of Health of the Basque Government, Department of Education of the Basque Government, Institut Català de la Salut, [García Castaño A, Pérez de Nanclares G] BioCruces Health Research Institute, Ciberer, Cruces University Hospital, Bizkaia, Spain. [Madariaga L] Pediatric Nephrology, Cruces University Hospital, Bizkaia, Spain. Department of Pediatrics, School of Medicine and Odontology, University of Basque Country UPV/EHU, Bizkaia, Spain. [Aguirre M] Pediatric Nephrology, Cruces University Hospital, Bizkaia, Spain. [Madrid Á, Chocrón S, Ariceta G] Servei de Nefrologia Pediàtrica, Vall d'Hebron Hospital Universitari, Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain, Vall d'Hebron Barcelona Hospital Campus, RenalTube Group, [García Castaño,A, Pérez de Nanclares,G, Castaño,L] BioCruces Health Research Institute, Ciberer, Cruces University Hospital, Bizkaia, Spain. [Madariaga,L, Aguirre,M] Pediatric Nephrology, Cruces University Hospital, Bizkaia, Spain. [Madariaga,L, Castaño,L] Department of Pediatrics, School of Medicine and Odontology, University of Basque Country UPV/EHU, Bizkaia, Spain. [Madrid,A, Chocrón,S, and Ariceta,G] Pediatric Nephrology, Vall d’Hebron University Hospital, Universitat Autonoma, Barcelona, Spain. [Nadal,I] Pediatric Nephrology, Virgen del Camino Hospital, Pamplona, Spain. [Navarro,M] Pediatric Nephrology, La Paz University Hospital, Madrid, Spain. [Lucas,E] Pediatrics, Manises Hospital, Valencia, Spain. [Fijo,J] Pediatric Nephrology, Virgen del Rocío Hospital, Sevilla, Spain. [Espino,M] Pediatric Nephrology, Fundación Alcorcón University Hospital, Madrid, Spain. [Espitaletta,Z] San Ignacio University Hospital, Bogotá, Colombia. [García Nieto,V] Pediatric Nephrology, Nuestra Señora de Candelaria University Hospital, Tenerife, Canarias, Spain. [Barajas de Frutos,D] Pediatric Nephrology, Virgen de las Nieves Hospital, Granada, Spain. [Loza,R] Nephrology Unit, Cayetano Heredia University, Cayetano Heredia Hospital, Lima, Peru. [Pintos,G] Germans Trias i Pujol University Hospital, Badalona, Spain. [Castaño,L] BioCruces Health Research Institute, Ciberer, Cruces University Hospital, Bizkaia, Spain, Department of Pediatrics, School of Medicine and Odontology, University of Basque Country UPV/EHU, Bizkaia, Spain, Centro de Investigación Biomédica en Red de Diabetes y Enfermedades Metabólicas Asociadas (CIBERDEM), Instituto de Salud Carlos III, Madrid, Spain.

Subjects
0301 basic medicine, Male, Pediatrics, Spanish People, chloride channel gene, Physiology, Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Proteins::Carrier Proteins::Membrane Transport Proteins::Ion Channels::Chloride Channels [Medical Subject Headings], 030232 urology & nephrology, Gene Identification and Analysis, lcsh:Medicine, Endocrine System Diseases::Adrenal Gland Diseases::Adrenocortical Hyperfunction::Hyperaldosteronism::Bartter Syndrome [DISEASES], Urine, Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Genome Components::Genes::Gene Components::Exons [Medical Subject Headings], Diseases::Nutritional and Metabolic Diseases::Metabolic Diseases::Water-Electrolyte Imbalance::Dehydration [Medical Subject Headings], Alcalosis, Deshidratación, Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans [Medical Subject Headings], 0302 clinical medicine, Diseases::Nutritional and Metabolic Diseases::Metabolic Diseases::Acid-Base Imbalance::Alkalosis [Medical Subject Headings], clcnkb, Reacción en cadena de la polimerasa, Genotype, Medicine and Health Sciences, Medicine, Ethnicities, lcsh:Science, Multidisciplinary, Diseases::Pathological Conditions, Signs and Symptoms::Pathologic Processes::Polydipsia [Medical Subject Headings], Otros calificadores::Otros calificadores::/genética [Otros calificadores], Eliminación de secuencia, gitelman, Large series, Ronyons - Malalties, Polidipsia, Humanos, Molecular analysis, Body Fluids, Deletion Mutation, Phenotype, Hipopotasemia, Child, Preschool, Phenotype genotype, Diseases::Nutritional and Metabolic Diseases::Metabolic Diseases::Water-Electrolyte Imbalance::Hypokalemia [Medical Subject Headings], Science & Technology - Other Topics, Female, Phenomena and Processes::Genetic Phenomena::Genotype [Medical Subject Headings], Malalties congènites, Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Genome Components::DNA, Intergenic::Introns [Medical Subject Headings], Anatomy, enfermedades del sistema endocrino::enfermedades de las glándulas suprarrenales::hiperfunción corticosuprarrenal::hiperaldosteronismo::síndrome de Bartter [ENFERMEDADES], Alelos, Research Article, medicine.medical_specialty, salt-losing tubulopathies, Diseases::Nutritional and Metabolic Diseases::Metabolic Diseases::Calcium Metabolism Disorders::Calcinosis::Nephrocalcinosis [Medical Subject Headings], Síndrome de bartter, Excretion, Diseases::Endocrine System Diseases::Adrenal Gland Diseases::Adrenocortical Hyperfunction::Hyperaldosteronism::Bartter Syndrome [Medical Subject Headings], Health Care::Health Services Administration::Organization and Administration::Professional Practice::Referral and Consultation [Medical Subject Headings], Diseases::Pathological Conditions, Signs and Symptoms::Signs and Symptoms::Urological Manifestations::Hypercalciuria [Medical Subject Headings], Bartter syndrome, Exones, 03 medical and health sciences, nephrocalcinosis, Genetics, Other subheadings::Other subheadings::/genetics [Other subheadings], Intrones, Point Mutation, Humans, Mutation detection, molecular analysis, Nefrocalcinosis, Mutation Detection, business.industry, lcsh:R, Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Genetic Techniques::Nucleic Acid Amplification Techniques::Polymerase Chain Reaction [Medical Subject Headings], Biology and Life Sciences, Bartter Syndrome, Infant, Human Genetics, medicine.disease, mutations, purl.org/pe-repo/ocde/ford#3.01.02 [https], 030104 developmental biology, Deletion mutation, Mutation, People and Places, Hipercalciuria, Phenomena and Processes::Genetic Phenomena::Genetic Processes::Mutagenesis::Sequence Deletion [Medical Subject Headings], lcsh:Q, Population Groupings, Remisión y consulta, business, Physiological Processes, Genotipo, Canales de cloruro
Abstract

Excreció; Genètica humana; Mutació Excreción; Genética humana; Mutación Excretion; Human genetics; Mutation Introduction Type III Bartter syndrome (BS) is an autosomal recessive renal tubule disorder caused by loss-of-function mutations in the CLCNKB gene, which encodes the chloride channel protein ClC-Kb. In this study, we carried out a complete clinical and genetic characterization in a cohort of 30 patients, one of the largest series described. By comparing with other published populations, and considering that 80% of our patients presented the p.Ala204Thr Spanish founder mutation presumably associated with a common phenotype, we aimed to test the hypothesis that allelic differences could explain the wide phenotypic variability observed in patients with type III BS. Methods Clinical data were retrieved from the referral centers. The exon regions and flanking intronic sequences of the CLCNKB gene were screened for mutations by polymerase chain reaction (PCR) followed by direct Sanger sequencing. Presence of gross deletions or duplications in the region was checked for by MLPA and QMPSF analyses. Results Polyuria, polydipsia and dehydration were the main common symptoms. Metabolic alkalosis and hypokalemia of renal origin were detected in all patients at diagnosis. Calciuria levels were variable: hypercalciuria was detected in 31% of patients, while 23% had hypocalciuria. Nephrocalcinosis was diagnosed in 20% of the cohort. Two novel CLCNKB mutations were identified: a small homozygous deletion (c.753delG) in one patient and a small deletion (c.1026delC) in another. The latter was present in compound heterozygosis with the already previously described p.Glu442Gly mutation. No phenotypic association was obtained regarding the genotype. Conclusion A poor correlation was found between a specific type of mutation in the CLCNKB gene and type III BS phenotype. Importantly, two CLCNKB mutations not previously described were found in our cohort This study was supported by two grants (PI09/90888 and PI11/01412) from the FIS of the Instituto de Salud Carlos III, Madrid, Spain, the Department of Health of the Basque Government (2014111064), and the Department of Education of the Basque Government (IT795-13).

Published
2017

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