Table 1.

Late-onset Bartter syndrome due to defect in the renal outer medullary potassium channel (ROMK)

Reference	Age at diagnosis, sex	Symptoms in childhood	K+ (mEq/l)	Bicarbonate (mEq/l)	Growth	Other metabolic abnormalities	Genetic sequencing
Li et al. [23]	32 years, female	Polyhydramnios, polyuria, polydipsia	2.4–4.0	27.5–31.4	Normal	Nephrocalcinosis, hypercalciuria; high urine chloride, hyperparathyroidism, hyperreninemia	Compound heterozygous; p.T234I; p.T71M
Gollasch et al. [24]	43 years, female	Polyuria, thirst	3.0	25.7	Normal	Blood creatinine 1.13 mg/dl, nephrocalcinosis, hypercalciuria; fractional excretion of sodium 2.3% and chloride 2.5%; high transtubular potassium gradient	Compound heterozygous; p.I66N; p.R292Q
Sharma et al. [25]	9 years, female	Polyuria, polydipsia by 2-year	2.5	32.5	5–10th centile	Nephrocalcinosis, hypercalciuria; mild hypercalcemia, high urine chloride; high 1,25(OH)2 vitamin D	Compound heterozygous; p.G90W; p.I211S
Huang et al. [26]	35 years, male	None	2.8	33	Normal	Nephrocalcinosis, hypercalciuria	Homozygous; p.L220F
Present patient	12 years, female	Polyhydramnios, polydipsia, polyuria; onset at 6–7 years	4.2–4.5	23–25	Normal	Nephrocalcinosis, hypercalciuria; high urine chloride; high parathyroid hormone, elevated fractional excretion of magnesium	Compound heterozygous; p.C49T; p.S219R