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Bartter and Gitelman syndromes.
Zieg J, Doležel Z. Zieg J, et al. Cas Lek Cesk. 2022 Summer;161(3-4):131-134. Cas Lek Cesk. 2022. PMID: 36100451 Review. English.
Bartter and Gitelman syndromes belong to salt-losing tubulopathies. These rare diseases may be associated with severe electrolyte disorders. ...
Bartter and Gitelman syndromes belong to salt-losing tubulopathies. These rare diseases may be associated with severe electrolyte dis …
Nephrogenic diabetes insipidus.
Bockenhauer D, Bichet DG. Bockenhauer D, et al. Curr Opin Pediatr. 2017 Apr;29(2):199-205. doi: 10.1097/MOP.0000000000000473. Curr Opin Pediatr. 2017. PMID: 28134709 Review.
RECENT FINDINGS: MAGED2 mutations caused X-linked polyhydramnios with prematurity and a severe but transient form of antenatal Bartter's syndrome.We distinguish two types of hereditary NDI: a 'pure' type with loss of water only and a complex type with …
RECENT FINDINGS: MAGED2 mutations caused X-linked polyhydramnios with prematurity and a severe but transient form of antenatal Bartter …
Diseases associated with calcium-sensing receptor.
Vahe C, Benomar K, Espiard S, Coppin L, Jannin A, Odou MF, Vantyghem MC. Vahe C, et al. Orphanet J Rare Dis. 2017 Jan 25;12(1):19. doi: 10.1186/s13023-017-0570-z. Orphanet J Rare Dis. 2017. PMID: 28122587 Free PMC article. Review.
Hypocalcemia disorders, which are more rare, are related to heterozygous activating mutations of the CASR gene (type 1), consisting of autosomal dominant hypocalcemia disorders, sometimes with a presentation of pseudo-Bartter's syndrome. The differential diag …
Hypocalcemia disorders, which are more rare, are related to heterozygous activating mutations of the CASR gene (type 1), consisting o …
Bartter Syndrome-Related Variants Distribution: Brazilian Data and Its Comparison with Worldwide Cohorts.
Vaisbich MH, Messa ACHL, Rangel-Santos AC, Ferreira JCOA, Nunes FAMDF, Watanabe A. Vaisbich MH, et al. Nephron. 2023;147(8):478-495. doi: 10.1159/000528557. Epub 2023 Mar 7. Nephron. 2023. PMID: 36882007
BACKGROUND: Genetic testing is recommended for accurate diagnosis of Bartter syndrome (BS) and serves as a basis for implementing specific target therapies. ...RESULTS: Twenty-two patients were included; Gitelman syndrome was diagnosed in 2 siblings wi …
BACKGROUND: Genetic testing is recommended for accurate diagnosis of Bartter syndrome (BS) and serves as a basis for implement …
Inherited salt-losing tubulopathy: An old condition but a new category of tubulopathy.
Nozu K, Yamamura T, Horinouchi T, Nagano C, Sakakibara N, Ishikura K, Hamada R, Morisada N, Iijima K. Nozu K, et al. Pediatr Int. 2020 Apr;62(4):428-437. doi: 10.1111/ped.14089. Epub 2020 Apr 13. Pediatr Int. 2020. PMID: 31830341 Review.
Bartter syndrome (BS) and Gitelman syndrome (GS) are syndromes associated with congenital tubular dysfunction, characterized by hypokalemia and metabolic alkalosis. Clinically, BS is classified into two types: the severe antenatal/neonatal type, which …
Bartter syndrome (BS) and Gitelman syndrome (GS) are syndromes associated with congenital tubular dysfunction, characte …
[Two cases of Dent disease type 1 with Bartter-like phenotype and literature review].
Cheng M, Meng X, Liu M, Gong CX. Cheng M, et al. Zhonghua Yi Xue Za Zhi. 2024 Sep 3;104(34):3256-3259. doi: 10.3760/cma.j.cn112137-20240315-00587. Zhonghua Yi Xue Za Zhi. 2024. PMID: 39193613 Review. Chinese.
The clinical presentation, treatment, and follow-up of two boys with type 1 Dent disease who exhibited a Bartter-like phenotype were retropectively analysed. ...Patients with type 1 Dent disease presenting with the Bartter-like phenotype …
The clinical presentation, treatment, and follow-up of two boys with type 1 Dent disease who exhibited a Bartter-like p …
Genetic background of neonatal hypokalemia.
Fang C, Zhou W. Fang C, et al. Pediatr Nephrol. 2025 Feb;40(2):301-317. doi: 10.1007/s00467-024-06492-5. Epub 2024 Sep 16. Pediatr Nephrol. 2025. PMID: 39283520 Review.
This review will aid clinicians by summarizing the genetic background of neonatal hypokalemia from two aspects: (1) increased excretion of K(+), whereby genetic factors primarily lead to increased renal Na(+) influx, decreased H(+) efflux, or reduced Cl(-) influx, ultimately resu …
This review will aid clinicians by summarizing the genetic background of neonatal hypokalemia from two aspects: (1) increased excretion of K …
Understanding Bartter syndrome and Gitelman syndrome.
Fremont OT, Chan JC. Fremont OT, et al. World J Pediatr. 2012 Feb;8(1):25-30. doi: 10.1007/s12519-012-0333-9. Epub 2012 Jan 27. World J Pediatr. 2012. PMID: 22282380 Review.
CONCLUSIONS: Patients with Bartter syndrome types 1, 2 and 4 present at a younger age than classic Bartter syndrome type 3. They present with symptoms, often quite severe in the neonatal period. Patients with classic Bartter syn …
CONCLUSIONS: Patients with Bartter syndrome types 1, 2 and 4 present at a younger age than classic Bartter sy …
[Regulation of kidney on potassium balance and its clinical significance].
Xie QH, Hao CM. Xie QH, et al. Sheng Li Xue Bao. 2023 Apr 25;75(2):216-230. Sheng Li Xue Bao. 2023. PMID: 37089096 Free article. Review. Chinese.
Therefore, when loss-of-function mutations in Na(+)-K(+)-2Cl(-) cotransporter (NKCC) expressed in the thick ascending limb of the loop and in Na(+)-Cl(-) cotransporter (NCC) expressed in the distal convoluted tubule (Bartter syndrome and Gitelman syndrome, re …
Therefore, when loss-of-function mutations in Na(+)-K(+)-2Cl(-) cotransporter (NKCC) expressed in the thick ascending limb of the loop and i …
New perspective of ClC-Kb/2 Cl- channel physiology in the distal renal tubule.
Zaika O, Tomilin V, Mamenko M, Bhalla V, Pochynyuk O. Zaika O, et al. Am J Physiol Renal Physiol. 2016 May 15;310(10):F923-30. doi: 10.1152/ajprenal.00577.2015. Epub 2016 Jan 20. Am J Physiol Renal Physiol. 2016. PMID: 26792067 Free PMC article. Review.
Since its identification as the underlying molecular cause of Bartter's syndrome type 3, ClC-Kb (ClC-K2 in rodents, henceforth it will be referred as ClC-Kb/2) is proposed to play an important role in systemic electrolyte balance and blood pressure reg …
Since its identification as the underlying molecular cause of Bartter's syndrome type 3, ClC-Kb (ClC-K2 in rodents, hen …
29 results