30 September 2020
: Case report
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. Elfert1ABCDEF*, David S. Geller23ADEF, Carol Nelson-Williams4ABCDF, Richard P. Lifton4ACD, Hassan Al-Malki5AB, Awais Nauman5ABCDFDOI: 10.12659/AJCR.924527
Am J Case Rep 2020; 21:e924527
Table 1. Laboratory investigations.
| Laboratory investigations | First admission | Second admission | During follow-up | Normal values |
|---|---|---|---|---|
| Serum creatinine | 96 umol/L | 106 umol/L | 62–124 umol/L | |
| Serum urea nitrogen | 9.3 mmol/L | 9.5 mmol/L | 1.7–8.3 mmol/L | |
| Serum potassium | 1.7 mmol/L | 1.6 mmol/L | 3.6–5.1 mmol/L | |
| Serum bicarbonate | 30 mmol/L | 23 mmol/L | 22–29 mmol/L | |
| Serum sodium | 134 mmol/L | 135 mmol/L | 135–145 mmol/L | |
| Serum chloride | 92 mmol/L | 92 mmol/L | 96–110 mmol/L | |
| Serum glucose | 5.13 mmol/L | 8.47 mmol/L | 3.3–5.1 mmol/L | |
| Serum calcium | 2.12 mmol/L | 2.1–2.6 mmol/L | ||
| Serum phosphorus | 0.95 mmol/L | 0.87–1.45 mmol/L | ||
| Serum parathyroid hormone | 101 pg/ml | 15–65 pg/ml | ||
| Vitamin D | 8 ng/ml | 7 ng/ml | 20–50 ng/ml | |
| Serum lipase | 11826 U/L | 13–60 U/L | ||
| Serum aldosterone | 1880 pmol/L | 80–860 pmol/L | ||
| Renin activity | 7.64 ng/ml/hr | 0.5–4.2 ng/ml/hr | ||
| Urine potassium creatinine ratio | 12.4 mmol/mmol | 8.09 mmol/mmol | ||
| Urine creatinine | 1.61 mmol/L | |||
| Urine urea | 30.1 mmol/L | |||
| Urine sodium | 76 mmol/L | 70 mmol/L | ||
| Urine chloride | 83 mmol/L | 71 mmol/L | ||
| Urine osmolarity | 274 mOsmol/KG | 223 mOsmol/KG | ||
| Urine magnesium | 0.79 mmol/L | |||
| 24-hour urine creatinine | 9.1 mmol/24h | |||
| 24-hour urine potassium | 50 mmol/24h | |||
| 24-hour urine calcium | 3.5 mmol/24h | |||
| Table 1 shows the laboratory investigations done during the 2 hospital admissions. | ||||






