Cargando…

Clinical features and molecular basis of pseudohypoaldosteronism type 1

Pseudohypoaldosteronism (PHA) type 1 is a disease showing mineralocorticoid resistance in the kidney and/or other mineralocorticoid target tissues. Patients with PHA1 present very high plasma aldosterone and renin levels, but they develop excessive salt wasting. There are three types of PHA1. The sy...

Descripción completa

Detalles Bibliográficos
Autores principales:	Tajima, Toshihiro, Morikawa, Shuntaro, Nakamura, Akie
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	The Japanese Society for Pediatric Endocrinology 2017
Materias:	Review
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5537208/ https://www.ncbi.nlm.nih.gov/pubmed/28804203 http://dx.doi.org/10.1297/cpe.26.109

Ejemplares similares

Two Japanese patients with the renal form of pseudohypoaldosteronism type 1 caused by mutations of NR3C2
por: Morikawa, Shuntaro, et al.
Publicado: (2015)

Neonatal screening and a new cause of congenital central hypothyroidism
por: Tajima, Toshihiro, et al.
Publicado: (2014)

Pseudohypoaldosteronism type 1: clinical features and management in infancy
por: Amin, N, et al.
Publicado: (2013)

Molecular and Clinical Findings in Patients with LHX4 and OTX2 Mutations
por: Tajima, Toshihiro, et al.
Publicado: (2013)

Hypercalcemia in an Infant With Pseudohypoaldosteronism Type 1
por: Jeng, Henry, et al.
Publicado: (2021)

Neonatal Pseudohypoaldosteronism Type-1 in Japan
por: Fujioka, Kazumichi, et al.
Publicado: (2022)

Critical Points in the Management of Pseudohypoaldosteronism Type 1
por: Güran, Tülay, et al.
Publicado: (2011)

Challenges in the diagnosis and management of Pseudohypoaldosteronism Type 1
por: Visser, Uma, et al.
Publicado: (2015)

A novel NR3C2 mutation in a Japanese patient with the renal form of pseudohypoaldosteronism type 1
por: Tsunogai, Toshiki, et al.
Publicado: (2016)

Results from 28 Years of Newborn Screening for Congenital Adrenal Hyperplasia in Sapporo
por: Morikawa, Shuntaro, et al.
Publicado: (2014)

Four Japanese Patients with Congenital Nephrogenic Diabetes Insipidus due to the AVPR2 Mutations
por: Namatame-Ohta, Noriko, et al.
Publicado: (2018)

Early Onset of Liver Steatosis in a Japanese Girl with Maturity-Onset Diabetes of the Young Type 3 (MODY3)
por: Nakamura, Akie, et al.
Publicado: (2012)

Dermal and Ophthalmic Findings in Pseudohypoaldosteronism
por: Korkut, Sabriye, et al.
Publicado: (2015)

MON-373 Pseudohypoaldosteronism Type 1, a Masquerader: Case Study
por: Akinseye, Leah, et al.
Publicado: (2019)

Novel Mutations in the SCNN1A Gene Causing Pseudohypoaldosteronism Type 1
por: Wang, Jian, et al.
Publicado: (2013)

Pseudohypoaldosteronism type 1 due to novel variants of SCNN1B gene
por: Nobel, Yael R, et al.
Publicado: (2016)

Clinical Management in Systemic Type Pseudohypoaldosteronism Due to SCNN1B Variant and Literature Review
por: Karacan Küçükali, Gülin, et al.
Publicado: (2021)

Recent advances in research on isolated congenital central hypothyroidism
por: Tajima, Toshihiro, et al.
Publicado: (2019)

A Rare Case of Pseudohypoaldosteronism Type II or Gordon Syndrome
por: Manas, F N U, et al.
Publicado: (2021)

A case of pseudohypoaldosteronism type 1 with a mutation in the mineralocorticoid receptor gene
por: Lee, Se Eun, et al.
Publicado: (2011)

Pseudohypoaldosteronism: case report and discussion of the syndrome.
por: Throckmorton, D. C., et al.
Publicado: (1991)

Challenges of Diagnosing Pseudohypoaldosteronism (PHA) in an Infant
por: Babar, Ghufran Saeed, et al.
Publicado: (2022)

Molecular Basis and Clinical Features of Neuroblastoma
por: Takita, Junko
Publicado: (2021)

Acid–Base Imbalance in Pseudohypoaldosteronism Type 1 in Comparison With Type IV Renal Tubular Acidosis
por: Adachi, Masanori, et al.
Publicado: (2022)

Systemic Pseudohypoaldosteronism Type I: A Case Report and Review of the Literature
por: Nur, Nasifa, et al.
Publicado: (2017)

Salt-Losing Syndrome in a Girl with Type I and II Pseudohypoaldosteronism
por: Szmigielska, Agnieszka
Publicado: (2022)

Pseudohypoaldosteronism Type 1: A Rare Cause of Severe Dyselectrolytemia and Cardiovascular Collapse in Neonates
por: Saravanapandian, Namasivayam, et al.
Publicado: (2012)

Rare Cause of Hyperkalemia in the Newborn Period: Report of Two Cases of Pseudohypoaldosteronism Type 1
por: Manipriya, R., et al.
Publicado: (2018)

A Unique Genotype of Pseudohypoaldosteronism Type 1b in a Highly Consanguineous Population
por: Alzahrani, Ali S, et al.
Publicado: (2021)

Pseudohypoaldosteronism Type 1 (arPHA1) Treated With Sodium Polystyrene Sulfonate Pretreated Milk
por: Khalil, Syed Tariq, et al.
Publicado: (2015)

Transient Pseudohypoaldosteronism in an Infant: A Case Report
por: Latt, Tin Nwe, et al.
Publicado: (2018)

Systemic pseudohypoaldosteronism-1 with episodic dyslipidemia in a Sudanese child
por: Abdalla, Asmahan, et al.
Publicado: (2021)

A young child with pseudohypoaldosteronism type II by a mutation of Cullin 3
por: Tsuji, Shoji, et al.
Publicado: (2013)

Phenotypic variation of autosomal recessive pseudohypoaldosteronism type I: a case in point
por: Kala Ahluwalia, Gunjeet, et al.
Publicado: (2014)

Pseudohypoaldosteronism Type II Caused by CUL3 Mutation Presented with Visual Impairment
por: Wang, Qiao, et al.
Publicado: (2018)

Errate: Salt-Losing Syndrome in a Girl with Type I and II Pseudohypoaldosteronism
por: Szmigielska, Agnieszka
Publicado: (2023)

Restoration of Epithelial Sodium Channel Function by Synthetic Peptides in Pseudohypoaldosteronism Type 1B Mutants
por: Willam, Anita, et al.
Publicado: (2017)

Autosomal dominant pseudohypoaldosteronism type 1 with a novel splice site mutation in MR gene
por: Kanda, Kyoko, et al.
Publicado: (2009)

A Novel SCNN1A Variation in a Patient with Autosomal-recessive Pseudohypoaldosteronism Type 1
por: Huneif, Mohammed Ayed, et al.
Publicado: (2022)

Does Pseudohypoaldosteronism Mask the Diagnosis of Congenital Adrenal Hyperplasia?
por: Ağladıoğlu, Sebahat Yılmaz, et al.
Publicado: (2011)

Cannot write session to /tmp/vufind_sessions/sess_0er48a6a6ale15166asqki4h7k