Cargando…

An infant case of pseudohypoaldosteronism type1A caused by a novel NR3C2 variant

Pseudohypoaldosteronism type1A (PHA1A) is the renal form of pseudohypoaldosteronism with autosomal dominant inheritance. PHA1A is caused by haploinsufficiency of the mineralocorticoid receptor, which is encoded by NR3C2. We encountered an infant who was diagnosed with PHA1A due to hyponatremia, hype...

Descripción completa

Detalles Bibliográficos
Autores principales:	Noda, Saki, Aoyama, Kohei, Kondo, Yuto, Okamura, Jun, Suzuki, Atsushi, Yamaguchi, Naoya, Yoshida, Aya, Miyake, Yoshishige
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2021
Materias:	Data Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8602301/ https://www.ncbi.nlm.nih.gov/pubmed/34795218 http://dx.doi.org/10.1038/s41439-021-00173-7

Ejemplares similares

An infant with a heterozygous variant of ABCG5 presented with hypercholesterolemia only during breastfeeding
por: Yoshida, Aya, et al.
Publicado: (2023)

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

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

De novo 2q36.3q37.1 deletion encompassing TRIP12 and NPPC yields distinct phenotypes
por: Kondo, Yuto, et al.
Publicado: (2020)

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

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

An infantile case of pseudohypoaldosteronism type 1 (PHA1) caused by a novel mutation of NR3C2
por: Goda, Takeshi, et al.
Publicado: (2020)

FRI160 Pseudohypoaldosteronism Type 1- A Rare Mutation In The NR3C2 Gene
por: Wahid Siddiqui, Juwairriyyah Abdul, et al.
Publicado: (2023)

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

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

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

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

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

THU598 Pseudohypoaldosteronism Type 2: A New Variant Of A Rare Disease
por: Gray Cater, Taylor Lauren, et al.
Publicado: (2023)

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)

Relationship between Birth Order and Postnatal Growth until 4 Years of Age: The Japan Environment and Children’s Study
por: Yoshida, Aya, et al.
Publicado: (2023)

A novel C-terminal truncating NR5A1 mutation in dizygotic twins
por: Hattori, Atsushi, et al.
Publicado: (2017)

SPAK Deficiency Corrects Pseudohypoaldosteronism II Caused by WNK4 Mutation
por: Chu, Pei-Yi, et al.
Publicado: (2013)

A rare cause of salt-wasting in early infancy: Transient pseudohypoaldosteronism
por: Ceylan, Dilara, et al.
Publicado: (2021)

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

A Neonate with Autosomal Dominant Pseudohypoaldosteronism Type 1 Due to a Novel Microdeletion of the NR3C2 Gene at 4q31.23
por: Kim, Su Jin, et al.
Publicado: (2021)

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

Pseudohypoaldosteronism in a neonate presenting as life-threatening arrhythmia
por: Rajpoot, Sudeep K, et al.
Publicado: (2014)

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

Pseudohypoaldosteronism in a Neonate Presenting as Life-Threatening Hyperkalemia
por: Attia, Najya A., et al.
Publicado: (2016)

Clinical features and molecular basis of pseudohypoaldosteronism type 1
por: Tajima, Toshihiro, et al.
Publicado: (2017)

SUN-184 Pseudohypoaldosteronism Presenting with Salt Wasting Crisis
por: Babar, Ghufran S
Publicado: (2020)

Secondary Pseudohypoaldosteronism Associated With Mild Hydronephrosis in a Newborn
por: Kodo, Kazuki, et al.
Publicado: (2021)

Transient Pseudohypoaldosteronism Secondary to Group B Streptococcus Pyelonephritis
por: Morisaki, Atsuo, et al.
Publicado: (2021)

Brugada syndrome uncovered in patient with pseudohypoaldosteronism due to hyperkalaemia
por: Barforoshi, Shiva, et al.
Publicado: (2023)

Hemizygous FLNA variant in West syndrome without periventricular nodular heterotopia
por: Hiromoto, Yoshitaka, et al.
Publicado: (2020)

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

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

A case report of pseudohypoaldosteronism type II with a homozygous KLHL3 variant accompanied by hyperthyroidism
por: Zhang, Rui, et al.
Publicado: (2021)

A Japanese adult and two girls with NEDMIAL caused by de novo missense variants in DHX30
por: Ueda, Kimiko, et al.
Publicado: (2021)

Secondary Pseudohypoaldosteronism Masquerading Congenital Adrenal Hyperplasia in a Neonate
por: Sethi, Sidharth Kumar, et al.
Publicado: (2018)

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

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

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

Cannot write session to /tmp/vufind_sessions/sess_38tjpu9bbp99su9ktg2daqq6pn