Cargando…

Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis: clinical and molecular characteristics

Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis (FHHNC) is an autosomal-recessive renal tubular disorder characterized by excessive urinary losses of magnesium and calcium, bilateral nephrocalcinosis and progressive chronic renal failure. Presentation with FHHNC symptoms generally...

Descripción completa

Detalles Bibliográficos
Autor principal:	Claverie-Martin, Felix
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2015
Materias:	Contents
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4655790/ https://www.ncbi.nlm.nih.gov/pubmed/26613020 http://dx.doi.org/10.1093/ckj/sfv081

Ejemplares similares

Two novel mutations of the CLDN16 gene cause familial hypomagnesaemia with hypercalciuria and nephrocalcinosis
por: Hanssen, Oriane, et al.
Publicado: (2014)

A novel CLDN16 mutation in a large family with familial hypomagnesaemia with hypercalciuria and nephrocalcinosis
por: Deeb, Asma, et al.
Publicado: (2013)

Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis (FHHNC): Compound heterozygous mutation in the claudin 16 (CLDN16) gene
por: Hampson, Geeta, et al.
Publicado: (2008)

Familial Hypomagnesemia, Hypercalciuria and Nephrocalcinosis with Novel Mutation
por: Margabandhu, S., et al.
Publicado: (2019)

Medullary nephrocalcinosis in idiopathic hypercalciuria
por: Koratala, Abhilash, et al.
Publicado: (2017)

Claudin-19 Mutations and Clinical Phenotype in Spanish Patients with Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis
por: Claverie-Martín, Félix, et al.
Publicado: (2013)

Novel compound heterozygous mutations of CLDN16 in a patient with familial hypomagnesemia with hypercalciuria and nephrocalcinosis
por: García‐Castaño, Alejandro, et al.
Publicado: (2020)

Correction: Claudin-19 Mutations and Clinical Phenotype in Spanish Patients with Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis
por: Claverie-Martín, Félix, et al.
Publicado: (2013)

Exonic CLDN16 mutations associated with familial hypomagnesemia with hypercalciuria and nephrocalcinosis can induce deleterious mRNA alterations
por: Perdomo-Ramirez, Ana, et al.
Publicado: (2019)

Familial hypomagnesaemia, Hypercalciuria and Nephrocalcinosis associated with a novel mutation of the highly conserved leucine residue 116 of Claudin 16 in a Chinese patient with a delayed diagnosis: a case report
por: Lu, Jingru, et al.
Publicado: (2018)

Infants With Congenital Adrenal Hyperplasia Are at Risk for Hypercalcemia, Hypercalciuria, and Nephrocalcinosis
por: Schoelwer, Melissa J., et al.
Publicado: (2017)

An Uncommon Cause of Hypomagnesemia With Hypercalciuria and Nephrocalcinosis in a Young Woman
por: Rudovich, Natalia N, et al.
Publicado: (2021)

Atypical presentation of familial hypomagnesemia with hypercalciuria and nephrocalcinosis in a patient with a new claudin-16 gene mutation
por: Vianna, Júlia Guasti P., et al.
Publicado: (2019)

Hypercalciuria and Nephrocalcinosis as Early Feature of Wilson Disease Onset: Description of a Pediatric Case and Literature Review
por: Di Stefano, Valeria, et al.
Publicado: (2012)

Medically Assisted Reproduction Treatment Types and Birth Outcomes: A Between-Family and Within-Family Analysis
por: Pelikh, Alina, et al.
Publicado: (2022)

Case Report: Investigation and molecular genetic diagnosis of familial hypomagnesaemia
por: Willows, Jamie, et al.
Publicado: (2019)

Clinical Epidemiology and Management of Hidradenitis Suppurativa
por: Sayed, Christopher J., et al.
Publicado: (2021)

When is contrast-enhanced sonography preferable over conventional ultrasound combined with Doppler imaging in renal transplantation?
por: Zeisbrich, Markus, et al.
Publicado: (2015)

Coronavirus Disease 2019 (COVID-19) and Access to Abortion: Assessing Patient Sociodemographic and Travel Characteristics
por: Hill, Brandon J., et al.
Publicado: (2021)

A novel LMX1B mutation in a family with end-stage renal disease of ‘unknown cause’
por: Edwards, Noel, et al.
Publicado: (2015)

Transplant renal artery stenosis: clinical manifestations, diagnosis and therapy
por: Chen, Wei, et al.
Publicado: (2015)

Hypomagnesaemia and Magnesium Deficiency
por: Sutton, R. A. L.
Publicado: (1968)

Welcome to the new ckj: an open-access resource integrating clinical, translational and educational research into clinical practice
por: Ortiz, Alberto
Publicado: (2015)

Virtual Compared With In-Clinic Transvaginal Ultrasonography for Ovarian Reserve Assessment
por: Chung, Esther H., et al.
Publicado: (2022)

Performance of a Vaginal Panel Assay Compared With the Clinical Diagnosis of Vaginitis
por: Broache, Molly, et al.
Publicado: (2021)

Pseudomonas exit-site infection: treatment outcomes with topical gentamicin in addition to systemic antibiotics
por: Burkhalter, Felix, et al.
Publicado: (2015)

The clinical features and outcomes of systemic AL amyloidosis: a cohort of 231 Chinese patients
por: Huang, Xianghua, et al.
Publicado: (2015)

From the nephrologist's point of view: diversity of causes and clinical features of acute kidney injury
por: Bienholz, Anja, et al.
Publicado: (2015)

Clinical Presentation of Coronavirus Disease 2019 (COVID-19) in Pregnant and Recently Pregnant People
por: Afshar, Yalda, et al.
Publicado: (2020)

Thrombotic microangiopathy: expanding genetic, clinical and therapeutic spectra and the need for worldwide implementation of recent advances
por: Sanchez-Niño, Maria D., et al.
Publicado: (2015)

Accuracy, Clinical Utility, and Usability of a Wireless Self-Guided Fetal Heart Rate Monitor
por: Porter, Paul, et al.
Publicado: (2021)

New combined CFH/MCP mutations and a rare clinical course in atypical haemolytic uraemic syndrome
por: Lopes, Daniela, et al.
Publicado: (2015)

Clinical features of IgA nephropathy with serum ANCA positivity: a retrospective case–control study
por: Yang, Ya-zi, et al.
Publicado: (2015)

Outpatient Compared With Inpatient Preinduction Cervical Ripening Using a Synthetic Osmotic Dilator: A Randomized Clinical Trial
por: Saad, Antonio F., et al.
Publicado: (2022)

Possible role for rare TRPM7 variants in patients with hypomagnesaemia with secondary hypocalcaemia
por: Vargas-Poussou, Rosa, et al.
Publicado: (2022)

Posaconazole and isavuconazole induced hypomagnesaemia
por: Burston, John, et al.
Publicado: (2018)

Hypomagnesaemia – One Cause To Remember!
por: Viegas, Ana Filipa, et al.
Publicado: (2022)

Semiautonomous Treatment Algorithm for the Management of Severe Hypertension in Pregnancy
por: Martin, Courtney, et al.
Publicado: (2021)

Fetal Sex Results of Noninvasive Prenatal Testing and Differences With Ultrasonography
por: Dhamankar, Rupin, et al.
Publicado: (2020)

Peritoneal ultrafiltration in end-stage chronic heart failure
por: Fröhlich, Hanna, et al.
Publicado: (2015)

Cannot write session to /tmp/vufind_sessions/sess_oo8s4g4fhiakod46h3jr01kmmq