30 September 2020>: Articles
Late-Onset Bartter Syndrome Type II Due to a Homozygous Mutation in Gene: A Case Report and Literature Review
Unusual clinical course, Rare disease
Khaled A. Elfert A* , David S. Geller A , Carol Nelson-Williams A , Richard P. Lifton A , Hassan Al-Malki A , Awais Nauman ADOI: 10.12659/AJCR.924527
Am J Case Rep 2020; 21:e924527
Table 2. Summary of previously reported similar cases.
Author | Age of presentation | Sex | Clinical presentation | Relevant investigations | Type of mutation in KCNJ1 gene | DNA sequence change | Amino acid change | Treatment |
---|---|---|---|---|---|---|---|---|
Huang et al., 2014 []3 | 35 | Male | Incidental finding of nephrocalcinosis in lumbar spine X-ray done for low back pain | A homozygous missense mutation | c.658C>T | p.Leu220Phe | Potassium supplementation and spironolactone | |
Gollasch et al., 2017 []4 | 43 | Female | Incidental finding of nephrocalcinosis in ultrasound done during pregnancy | A compound heterozygous missense mutation | c.197T>A (novel mutation) | p.Ile66Asn | Potassium supplement and angiotensin-converting-enzyme inhibitors (ramipril) | |
c.875G>A | p.Arg292Gln | |||||||
Li et al., 2019 []5 | 34 | Female | Weakness. persistent polyuria and polydipsia; weight and height were normal | A compound heterozygous missense mutation | c.701C>T (novel mutation) | p.The234Ile | Potassium supplementation | |
c.212C>T | p.Thr71Met | |||||||
Sharma et. al., 2011 []6 | 8.5 | Female | Persistent polyuria and polydipsia; fifth percentile for weight and height | A novel compound heterozygous mutation | c.268G>T | p.Gly90Trp | Potassium supplementation and nonsteroidal anti-inflamma-tory drugs (NSAIDs) | |
c.632T>G | p.Ile211Ser | |||||||
Present case | 26 | Male | Weakness. persistent polyuria and polydipsia; weight and height were normal | A homozygous missense mutation | c.658C>T | p.Leu220Phe | Potassium supplement and Aldosterone antagonists | |
Table 2 shows 4 previously reported cases of late-onset Bartter syndrome type II. |