Cargando…

Bartter Syndrome Type 1 Due to Novel SLC12A1 Mutations Associated With Pseudohypoparathyroidism Type II

Bartter syndrome type 1 is caused by mutations in the solute carrier family 12 member 1 (SLC12A1), encoding the sodium-potassium-chloride cotransporter-2 (NKCC2). In addition to causing renal salt-losing tubulopathy, SLC12A1 mutations are known to cause nephrocalcinosis due to hypercalciuria, as wel...

Descripción completa

Detalles Bibliográficos
Autores principales:	Kiuchi, Zentaro, Nozu, Kandai, Yan, Kunimasa, Jüppner, Harald
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2023
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10580512/ https://www.ncbi.nlm.nih.gov/pubmed/37908481 http://dx.doi.org/10.1210/jcemcr/luad019

Ejemplares similares

A Distinct Variant of Pseudohypoparathyroidism (PHP) First Characterized Some 41 Years Ago Is Caused by the 3‐kb STX16 Deletion
por: Kiuchi, Zentaro, et al.
Publicado: (2021)

Molecular Definition of Pseudohypoparathyroidism Variants
por: Jüppner, Harald
Publicado: (2021)

Pseudohypoparathyroidism type 1a due to a novel mutation in the GNAS gene
por: Lemos, Manuel C., et al.
Publicado: (2015)

Antenatal Bartter Syndrome Caused by a Novel Homozygous Mutation in SLC12A1 Gene
por: Acar, Filiz Aktürk, et al.
Publicado: (2019)

Contradiction between genetic analysis and diuretic loading test in type I Bartter syndrome: a case report
por: Kuroda, Jumpei, et al.
Publicado: (2021)

GNAS Mutations in Pseudohypoparathyroidism Type 1a and Related Disorders
por: Lemos, Manuel C, et al.
Publicado: (2015)

Late-onset Bartter syndrome type II
por: Gollasch, Benjamin, et al.
Publicado: (2017)

Functional Properties of Two Distinct PTH1R Mutants Associated With Either Skeletal Defects or Pseudohypoparathyroidism
por: Portales‐Castillo, Ignacio, et al.
Publicado: (2022)

Pseudo-Bartter syndrome in an infant without obvious underlying conditions: A case report
por: Toyoda, Junya, et al.
Publicado: (2023)

Late-Onset Bartter Syndrome Type II Due to a Homozygous Mutation in KCNJ1 Gene: A Case Report and Literature Review
por: Elfert, Khaled A., et al.
Publicado: (2020)

Hypercalcitoninaemia in pseudohypoparathyroidism type 1A and type 1B
por: Yavropoulou, Maria P, et al.
Publicado: (2019)

Identification of a Novel Mutation in a Family with Pseudohypoparathyroidism Type 1a
por: Moutinho, Adelaide, et al.
Publicado: (2018)

Genetic heterogeneity in patients with Bartter syndrome type 1
por: Sun, Mingran, et al.
Publicado: (2017)

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

Paradoxical hypertension and salt wasting in Type II Bartter syndrome
por: Chan, Winnie Kwai-yu, et al.
Publicado: (2012)

Tertiary hyperparathyroidism in patients with pseudohypoparathyroidism type 1a
por: Itoh, Masatsune, et al.
Publicado: (2022)

A Case of Pseudohypoparathyroidism Type 1b in Pregnancy
por: Balasubramanian, Priyadarshini, et al.
Publicado: (2021)

Late-Onset Bartter Syndrome Type II Due to a Novel Compound Heterozygous Mutation in KCNJ1 Gene: A Case Report and Literature Review
por: Tian, Mi, et al.
Publicado: (2022)

FRI596 Randomized Clinical Trial Of Theophylline For Treatment Of Pseudohypoparathyroidism Type 1a
por: Shoemaker, Ashley Hall, et al.
Publicado: (2023)

Central precocious puberty in a boy with pseudohypoparathyroidism type Ia due to a novel GNAS mutation
por: Kagami, Ryosuke, et al.
Publicado: (2020)

Bartter Syndrome Type 1 Presenting as Nephrogenic Diabetes Insipidus
por: Vergine, Gianluca, et al.
Publicado: (2018)

Energy Expenditure in Obese Children with Pseudohypoparathyroidism Type 1a
por: Shoemaker, Ashley H., et al.
Publicado: (2012)

SAT-343 Diagnosis and Management of Pseudohypoparathyroidism Type 1B
por: Tahata, Shawn, et al.
Publicado: (2020)

Infant With Pseudohypoparathyroidism Type 1a, Misdiagnosed as Congenital Hypothyroidism
por: Sakran, Wessal Al, et al.
Publicado: (2023)

Identification of a novel GNAS mutation in a case of pseudohypoparathyroidism type 1A with normocalcemia
por: Long, Xiao-dan, et al.
Publicado: (2018)

Identification of a novel mutation in a patient with pseudohypoparathyroidism type Ia
por: Lee, Ye Seung, et al.
Publicado: (2014)

Mutations in Pseudohypoparathyroidism 1a and Pseudopseudohypoparathyroidism in Ethnic Chinese
por: Wu, Yi-Lei, et al.
Publicado: (2014)

Ectopic Calcification as Discernible Manifestation in Neonates with Pseudohypoparathyroidism Type 1a
por: Adachi, Masanori, et al.
Publicado: (2009)

Identification of compound mutations of SLC12A3 gene in a Chinese pedigree with Gitelman syndrome exhibiting Bartter syndrome-liked phenotypes
por: Dong, Bingzi, et al.
Publicado: (2020)

Pseudohypoparathyroidism type I‐b with neurological involvement is associated with a homozygous PTH1R mutation
por: Guerreiro, R., et al.
Publicado: (2016)

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

Late-Onset Bartter’s Syndrome Type II with End-Stage Renal Disease Due to a Novel Mutation in KCNJ1 Gene in an Indian Adult Male – A Case Report
por: Gaggar, Payal, et al.
Publicado: (2023)

FRI597 Impact Of Theophylline On BMI In Pseudohypoparathyroidism Type 1a - Results Of An Open Label Extension Trial
por: Shoemaker, Ashley Hall, et al.
Publicado: (2023)

Adult presentation of Bartter syndrome type IV with erythrocytosis
por: Heilberg, Ita Pfeferman, et al.
Publicado: (2015)

SUN-510 Pseudohypoparathyroidism Type 1b Presenting With Fahr Syndrome In An Adolescent.
por: Chen, Jarreau
Publicado: (2019)

Delayed diagnosis of pseudohypoparathyroidism type 1a with rare hypothyroidism since childhood
por: Jun, Ji Eun, et al.
Publicado: (2022)

PSAT185 Pseudohypoparathyroidism Type 1B: A Medication Compliance Challenge
por: Barreiro Sacco, Susana, et al.
Publicado: (2022)

An intricate case of sporadic pseudohypoparathyroidism type 1B with a review of literature
por: Silva, José Diogo Ramalho e, et al.
Publicado: (2020)

Explorative research on glucolipid metabolism and levels of adipokines in pseudohypoparathyroidism type 1 patients
por: Yang, Yi, et al.
Publicado: (2023)

Characteristic Height Growth Pattern in Patients with Pseudohypoparathyroidism: Comparison between Type 1a and Type 1b
por: Kinoshita, Kaori, et al.
Publicado: (2007)

Cannot write session to /tmp/vufind_sessions/sess_nngqinvnp2fon5ut8tiavb6qrg