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Page 1
A mild and transient form of autosomal recessive pseudohypoaldosteronism type 1 caused by a novel mutation in the SCNN1A gene.
Efthymiadou A, Gautschi I, van Bemmelen MX, Sertedaki A, Giannakopoulos A, Chrousos G, Schild L, Chrysis D. Efthymiadou A, et al. Am J Physiol Endocrinol Metab. 2023 Jul 1;325(1):E1-E9. doi: 10.1152/ajpendo.00332.2022. Epub 2023 May 3. Am J Physiol Endocrinol Metab. 2023. PMID: 37134141 Free article.
We investigate the genetic etiology in a cohort of patients with a clinical, biochemical, and hormonal profile suggestive of a mild and transient form of pseudohypoaldosteronism type 1 (PHA1). Twelve patients with PHA1 from four different families with clinic …
We investigate the genetic etiology in a cohort of patients with a clinical, biochemical, and hormonal profile suggestive of a mild and tran …
30 YEARS OF THE MINERALOCORTICOID RECEPTOR: Mineralocorticoid receptor mutations.
Zennaro MC, Fernandes-Rosa F. Zennaro MC, et al. J Endocrinol. 2017 Jul;234(1):T93-T106. doi: 10.1530/JOE-17-0089. Epub 2017 Mar 27. J Endocrinol. 2017. PMID: 28348114 Review.
Loss-of-function mutations of the MR are responsible for renal pseudohypoaldosteronism type 1 (PHA1), a rare disease of mineralocorticoid resistance presenting in the newborn with weight loss, failure to thrive, vomiting and dehydration, associated with hyper …
Loss-of-function mutations of the MR are responsible for renal pseudohypoaldosteronism type 1 (PHA1), a rare disease of …
Pseudohypoaldosteronism type 1b in fraternal twins of a Chinese family: report of two cases and literature review.
Gao Z, Sun J, Cai C, Gong X, Ma L. Gao Z, et al. Arch Endocrinol Metab. 2023 May 12;67(4):e000620. doi: 10.20945/2359-3997000000620. Arch Endocrinol Metab. 2023. PMID: 37252702 Free PMC article. Review.
Sanger sequencing results showed that the c.1439+1G>C variant was inherited from the mother, and c.875+1G>A from the father, rarely reported in pseudohypoaldosteronism type 1 with sodium epithelial channel destruction (PHA1b) patients. Case 2 received t …
Sanger sequencing results showed that the c.1439+1G>C variant was inherited from the mother, and c.875+1G>A from the father, rarely re …
Dietary potassium restriction attenuates urinary sodium wasting in the generalized form of pseudohypoaldosteronism type 1.
Adachi M, Tajima T, Muroya K. Adachi M, et al. CEN Case Rep. 2020 May;9(2):133-137. doi: 10.1007/s13730-019-00441-0. Epub 2020 Jan 3. CEN Case Rep. 2020. PMID: 31900739 Free PMC article. Review.
Owing to its rarity and severe nature, the treatment for generalized pseudohypoaldosteronism type 1 (PHA1), a genetic disorder in the epithelial sodium channel (ENaC), is exclusively experience-based. ...
Owing to its rarity and severe nature, the treatment for generalized pseudohypoaldosteronism type 1 (PHA1), a genetic d …
A Novel SCNN1A Variation in a Patient with Autosomal-recessive Pseudohypoaldosteronism Type 1.
Huneif MA, Alhazmy ZH, Shoomi AM, Alghofely MA, Heena H, Mushiba AM, AlSaheel A. Huneif MA, et al. J Clin Res Pediatr Endocrinol. 2022 Jun 7;14(2):244-250. doi: 10.4274/jcrpe.galenos.2021.2020.0175. Epub 2021 Apr 8. J Clin Res Pediatr Endocrinol. 2022. PMID: 33829730 Free PMC article.
Pseudohypoaldosteronism type 1 (PHA1) is an autosomal-recessive disorder characterized by defective regulation of body sodium (Na) levels. ...
Pseudohypoaldosteronism type 1 (PHA1) is an autosomal-recessive disorder characterized by defective regulation of body …
Systemic Pseudohypoaldosteronism Type 1 due to 3 Novel Mutations in SCNN1Aand SCNN1BGenes.
Cayir A, Demirelli Y, Yildiz D, Kahveci H, Yarali O, Kurnaz E, Vuralli D, Demirbilek H. Cayir A, et al. Horm Res Paediatr. 2019;91(3):175-185. doi: 10.1159/000498860. Epub 2019 Apr 24. Horm Res Paediatr. 2019. PMID: 31018202
OBJECTIVE: The systemic form of pseudohypoaldosteronism type 1 (PHA1) is an autosomal recessive disorder characterized by defective sodium transport in multi-organ systems. ...
OBJECTIVE: The systemic form of pseudohypoaldosteronism type 1 (PHA1) is an autosomal recessive disorder characterized …
An unusual case of Pseudohypoaldosteronism coexisting with cystic fibrosis.
Umapathy N, Thirugnana Sambanda Moorthy B, Azhagar Nambi Santhi V, Nair LDV. Umapathy N, et al. BMJ Case Rep. 2024 Jun 24;17(6):e260221. doi: 10.1136/bcr-2024-260221. BMJ Case Rep. 2024. PMID: 38914525
Pseudohypoaldosteronism type 1 is a rare congenital autosomal recessive disorder, characterised by failure of receptor response to aldosterone. ...
Pseudohypoaldosteronism type 1 is a rare congenital autosomal recessive disorder, characterised by failure of receptor …
18 results