Late-Onset Bartter Syndrome Type II Due to a Homozygous Mutation in KCNJ1 Gene: A Case Report and Literature Review

Khaled A. Elfert; David S. Geller; Carol Nelson-Williams; Richard P. Lifton; Hassan Al-Malki; Awais Nauman

doi:10.12659/AJCR.924527

30 September 2020 : Case report Qatar

Late-Onset Bartter Syndrome Type II Due to a Homozygous Mutation in KCNJ1 Gene: A Case Report and Literature Review

Unusual clinical course, Rare disease

Khaled A. Elfert^1ABCDEF*, David S. Geller^23ADEF, Carol Nelson-Williams^4ABCDF, Richard P. Lifton^4ACD, Hassan Al-Malki^5AB, Awais Nauman^5ABCDF

DOI: 10.12659/AJCR.924527

Am J Case Rep 2020; 21:e924527

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Table 2. Summary of previously reported similar cases.

Author	Age of presentation	Sex	Clinical presentation	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)
Gollasch et al., 2017 []⁴	43	Female		A compound heterozygous missense mutation	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
Li et al., 2019 []⁵	34	Female		A compound heterozygous missense mutation	c.212C>T	p.Thr71Met	Potassium supplementation
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)
Sharma et. al., 2011 []⁶	8.5	Female		A novel compound heterozygous mutation	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.

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Late-Onset Bartter Syndrome Type II Due to a Homozygous Mutation in KCNJ1 Gene: A Case Report and Literature Review

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