BackBrowsing Artículos, Comunicaciones, Libros by Author "Madariaga, Leyre"
Now showing items 1-9 of 9
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Acidosis tubular renal distal hereditaria: correlación genotípica, evolución a largo plazo y nuevas perspectivas terapéuticas
; ; ; ; ; Castaño González, Luis Antonio
; Madariaga Domínguez, Leire (Elsevier, 2021-07)
[ES] La acidosis tubular renal distal (ATRD) es una enfermedad rara que se debe al fallo del proceso normal de acidificación de la orina a nivel tubular distal y colector. Se caracteriza por una acidosis metabólica ... -
Five Patients with Disorders of Calcium Metabolism Presented with GCM2 Gene Variants
García Castaño, Alejandro; Madariaga Domínguez, Leire; Gómez Conde, Sara; Rey Cordo, Carmen Lourdes; López Iglesias, María; García Fernández, Yolanda; Martín Nieto, Alicia; González, Pedro; Goicolea, Ignacio; Pérez de Nanclares, Gustavo; De la Hoz, Ana Belén; Aguayo Calcena, Aníbal; Martínez de la Piscina Martín, Idoia; Martínez Salazar, Rosa; Saso Jiménez, Laura; Urrutia, Inés; Velasco, Olaia; Castaño González, Luis Antonio ; Gaztambide Sáenz, María Sonia (Nature, 2021-02-03)
The GCM2 gene encodes a transcription factor predominantly expressed in parathyroid cells that is known to be critical for development, proliferation and maintenance of the parathyroid cells. A cohort of 127 Spanish patients ... -
Genetics of Type III Bartter Syndrome in Spain, Proposed Diagnostic Algorithm
García Castaño, Alejandro; Pérez de Nanclares, Gustavo; Madariaga Domínguez, Leire; Aguirre, Mireia; Madrid, Alvaro; Nadal, Inmaculada; Navarro, Mercedes; Lucas, Elena; Fijo, Julia; Espino, Mar; Espitaletta, Zilac; Castaño González, Luis Antonio ; Ariceta, Gema; RenalTube Group (Public Library of Science, 2013-09-18)
The p.Ala204Thr mutation (exon 7) of the CLCNKB gene is a "founder" mutation that causes most of type III Bartter syndrome cases in Spain. We performed genetic analysis of the CLCNKB gene, which encodes for the chloride ... -
Novel compound heterozygous mutations of CLDN16 in a patient with familial hypomagnesemia with hypercalciuria and nephrocalcinosis
Monnier, Xavier; García Castaño, Alejandro; Perdomo Ramírez, Ana; Vall Palomar, Mònica; Ramos Trujillo, Elena; Madariaga Domínguez, Leire; Ariceta, Gema; Claverie Martín, Félix (Wiley, 2020-11)
Background: Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is an autosomal recessive tubulopathy characterized by excessive urinary wasting of magnesium and calcium, bilateral nephrocalcinosis, ... -
Novel Variant in the CNNM2 Gene Associated with Dominant Hypomagnesemia
García Castaño, Alejandro; Madariaga Domínguez, Leire; Antón Gamero, Montserrat; Mejia, Natalia; Ponce, Jenny; Gómez Conde, Sara; Pérez de Nanclares, Gustavo; De la Hoz, Ana Belén; Martínez Salazar, Rosa; Saso Jiménez, Laura; Martínez de la Piscina Martín, Idoia; Urrutia, Inés; Velasco, Olaia; Aguayo Calcena, Aníbal; Castaño González, Luis Antonio ; Gaztambide Sáenz, María Sonia (Public Library Science, 2020-09-30)
The maintenance of magnesium (Mg2+) homeostasis is essential for human life. The Cystathionine-beta-synthase (CBS)-pair domain divalent metal cation transport mediators (CNNMs) have been described to be involved in maintaining ... -
Phenotypic characterization of X-linked hypophosphatemia in pediatric Spanish population
Rodríguez Rubio, Enrique; Gil Peña, Helena; Chocron, Sara; Madariaga Domínguez, Leire; De la Cerda Ojeda, Francisco; Fernández Fernández, Marta; De Lucas Collantes, Carmen; Gil, Marta; Luis Yanes, María Isabel; Vergara, Inés; González Rodríguez, Juan David; Ferrando, Susana; Antón Gamero, Montserrat; Carrasco Hidalgo-Barquero, Marta; Fernández Escribano, Angustias; Fernández Maseda, Mª Ángeles; Espinosa, Laura; Oliet, Aniana; Vicente, Antonio; Ariceta, Gema; Santos, Fernando (BMC, 2021-02-27)
BACKGROUND: X-linked hypophosphatemia (XLH) is a hereditary rare disease caused by loss-of-function mutations in PHEX gene leading tohypophosphatemia and high renal loss of phosphate. Rickets and growth retardation are the ... -
Poor phenotype-genotype association in a large series of patients with Type III Bartter syndrome
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 (Public Library Science, 2017-03-13)
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 ... -
Use of rasburicase to improve kidney function in children with hyperuricemia and acute kidney injury
; ; Madariaga Domínguez, Leire; ; ; (Springer Nature, 2024-01)
Background Hyperuricemia contributes to decrease in kidney function and induces additional renal damage in children with acute kidney injury (AKI). Rasburicase oxidizes uric acid (UA), decreasing its serum quantities ... -
Variable phenotype in HNF1B mutations: extrarenal manifestations distinguish affected individuals from the population with congenital anomalies of the kidney and urinary tract
Madariaga Domínguez, Leire; García Castaño, Alejandro; Ariceta, Gema; Martínez Salazar, Rosa; Aguayo Calcena, Aníbal; Castaño González, Luis Antonio (Oxford Academic, 2019)
Background: Mutations in hepatocyte nuclear factor 1B (HNF1B) have been associated with congenital anomalies of the kidney and urinary tract (CAKUT) in humans. Diabetes and other less frequent anomalies have also been ...