Cargando…

A Therapeutic Challenge: Liddle's Syndrome Managed with Amiloride during Pregnancy

Liddle's syndrome (LS) is a rare heritable form of hypertension that often affects young patients. It is caused by gain-of-function mutations of the kidney epithelial sodium channel (ENaC) and it is classically associated with hypokalemia and suppression of renin and aldosterone. LS is characte...

Descripción completa

Detalles Bibliográficos
Autores principales:	Caretto, Amelia, Primerano, Liviana, Novara, Francesca, Zuffardi, Orsetta, Genovese, Stefano, Rondinelli, Maurizio
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Hindawi Publishing Corporation 2014
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4158429/ https://www.ncbi.nlm.nih.gov/pubmed/25210634 http://dx.doi.org/10.1155/2014/156250

Ejemplares similares

Liddle’s syndrome mechanisms, diagnosis and management
por: Enslow, Benjamin T, et al.
Publicado: (2019)

A donor splice site mutation in CISD2 generates multiple truncated, non-functional isoforms in Wolfram syndrome type 2 patients
por: Cattaneo, Monica, et al.
Publicado: (2017)

Management of Liddle Syndrome in Pregnancy: A Case Report and Literature Review
por: Awadalla, Michael, et al.
Publicado: (2017)

Role of the UPS in Liddle syndrome
por: Rotin, Daniela
Publicado: (2008)

Liddle Syndrome in Association with Aortic Dissection
por: Abbass, Aamer, et al.
Publicado: (2017)

Liddle Syndrome: Review of the Literature and Description of a New Case
por: Tetti, Martina, et al.
Publicado: (2018)

Neonatal presentation of a patient with Liddle syndrome, South Africa
por: Steyn, Nicolene, et al.
Publicado: (2023)

Liddle syndrome presenting with normal aldosterone levels: A case report
por: Wang, Rongrong, et al.
Publicado: (2023)

Transcutaneous electrical stimulation therapy and genetic analysis in Dercum's disease: A pilot study
por: Caretto, Amelia, et al.
Publicado: (2021)

MECP2 duplication phenotype in symptomatic females: report of three further cases
por: Novara, Francesca, et al.
Publicado: (2014)

A case report of three children with secondary hypertension caused by Liddle syndrome
por: Teoh, Zheyi, et al.
Publicado: (2020)

Antifungal activity of 6-substituted amiloride and hexamethylene amiloride (HMA) analogs
por: Vu, Kiem, et al.
Publicado: (2023)

Saline Infusion and Amiloride in the Management of Lithium Toxicity
por: Czerniewski, Ian W D, et al.
Publicado: (1990)

A Novel Frameshift Mutation of SCNN1G Causing Liddle Syndrome with Normokalemia
por: Fan, Peng, et al.
Publicado: (2019)

Dissection of partial 21q monosomy in different phenotypes: clinical and molecular characterization of five cases and review of the literature
por: Errichiello, Edoardo, et al.
Publicado: (2016)

Liddle’s-like syndrome associated with nephrotic syndrome secondary to membranous nephropathy: the first case report
por: Yamaguchi, Eriko, et al.
Publicado: (2018)

Amiloride: A review
por: Sun, Qianhui, et al.
Publicado: (2020)

Guideline recommendations for diagnosis and clinical management of Ring14 syndrome—first report of an ad hoc task force
por: Rinaldi, Berardo, et al.
Publicado: (2017)

Different molecular mechanisms causing 9p21 deletions in acute lymphoblastic leukemia of childhood
por: Novara, Francesca, et al.
Publicado: (2009)

Pseudohypoaldosteronism type 1 and Liddle’s syndrome mutations that affect the single-channel properties of the epithelial Na(+) channel
por: Boiko, Nina, et al.
Publicado: (2015)

Liddle syndrome misdiagnosed as primary aldosteronism resulting from a novel frameshift mutation of SCNN1B
por: Fan, Peng, et al.
Publicado: (2018)

Amiloride hydrochloride methanol disolvate
por: Ton, Cuong Quoc, et al.
Publicado: (2010)

Pharmacokinetics of intranasal amiloride in healthy volunteers
por: Yellepeddi, Venkata K., et al.
Publicado: (2023)

Successful Management of Refractory Type 1 Renal Tubular Acidosis with Amiloride
por: Oguejiofor, Patrick, et al.
Publicado: (2017)

Liddle’s syndrome in an African male due to a novel frameshift mutation in the beta-subunit of the epithelial sodium channel gene
por: Freercks, Robert, et al.
Publicado: (2017)

Clinical Manifestations in a Girl with NAA10-Related Syndrome and Genotype–Phenotype Correlation in Females
por: Maini, Ilenia, et al.
Publicado: (2021)

Prenatal Noninvasive Trio-WES in a Case of Pregnancy-Related Liver Disorder
por: Provenzano, Aldesia, et al.
Publicado: (2021)

Amiloride-Sensitive Sodium Channels and Pulmonary Edema
por: Althaus, Mike, et al.
Publicado: (2011)

Cesium-associated hypokalemia successfully treated with amiloride
por: Horn, Sarah, et al.
Publicado: (2015)

Trial of Amiloride in Type 2 Diabetes With Proteinuria
por: Unruh, Mark L., et al.
Publicado: (2017)

Stability of extemporaneously compounded amiloride nasal spray
por: Yellepeddi, Venkata, et al.
Publicado: (2020)

Liddle Syndrome due to a Novel c.1713 Deletion in the Epithelial Sodium Channel β-Subunit in a Normotensive Adolescent
por: Brower, Raven K., et al.
Publicado: (2020)

Pathogenicity and Long-Term Outcomes of Liddle Syndrome Caused by a Nonsense Mutation of SCNN1G in a Chinese Family
por: Zhang, Di, et al.
Publicado: (2022)

Allosteric modulation of G protein‐coupled receptors by amiloride and its derivatives. Perspectives for drug discovery?
por: Massink, Arnault, et al.
Publicado: (2019)

In vitro biosafety profile evaluation of multipotent mesenchymal stem cells derived from the bone marrow of sarcoma patients
por: Lucarelli, Enrico, et al.
Publicado: (2014)

Pediatric Liddle Syndrome Caused by a Novel SCNN1G Variant in a Chinese Family and Characterized by Early-Onset Hypertension
por: Fan, Peng, et al.
Publicado: (2020)

Corrigendum: Pathogenicity and Long-Term Outcomes of Liddle Syndrome Caused by a Nonsense Mutation of SCNN1G in a Chinese Family
por: Zhang, Di, et al.
Publicado: (2022)

Lithium-induced polyuria and amiloride: Key issues and considerations
por: Pattanayak, Raman Deep, et al.
Publicado: (2017)

Effect of Amiloride to Retinal Toxicity Induced by Tissue Plasminogen Activator
por: Kim, Ungsoo Samuel, et al.
Publicado: (2012)

The effect of topical amiloride eye drops on tear quantity in rabbits
por: Hara, Shuya, et al.
Publicado: (2010)

Cannot write session to /tmp/vufind_sessions/sess_qddpt5bce1s7mpd5s7vgf03h2f