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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 A

DOI: 10.12659/AJCR.924527

Am J Case Rep 2020; 21:e924527

Table 1. Laboratory investigations.

Laboratory investigationsFirst admissionSecond admissionDuring follow-upNormal values
Serum creatinine96 umol/L106 umol/L62–124 umol/L
Serum urea nitrogen9.3 mmol/L9.5 mmol/L1.7–8.3 mmol/L
Serum potassium1.7 mmol/L1.6 mmol/L3.6–5.1 mmol/L
Serum bicarbonate30 mmol/L23 mmol/L22–29 mmol/L
Serum sodium134 mmol/L135 mmol/L135–145 mmol/L
Serum chloride92 mmol/L92 mmol/L96–110 mmol/L
Serum glucose5.13 mmol/L8.47 mmol/L3.3–5.1 mmol/L
Serum calcium2.12 mmol/L2.1–2.6 mmol/L
Serum phosphorus0.95 mmol/L0.87–1.45 mmol/L
Serum parathyroid hormone101 pg/ml15–65 pg/ml
Vitamin D8 ng/ml7 ng/ml20–50 ng/ml
Serum lipase11826 U/L13–60 U/L
Serum aldosterone1880 pmol/L80–860 pmol/L
Renin activity7.64 ng/ml/hr0.5–4.2 ng/ml/hr
Urine potassium creatinine ratio12.4 mmol/mmol8.09 mmol/mmol
Urine creatinine1.61 mmol/L
Urine urea30.1 mmol/L
Urine sodium76 mmol/L70 mmol/L
Urine chloride83 mmol/L71 mmol/L
Urine osmolarity274 mOsmol/KG223 mOsmol/KG
Urine magnesium0.79 mmol/L
24-hour urine creatinine9.1 mmol/24h
24-hour urine potassium50 mmol/24h
24-hour urine calcium3.5 mmol/24h
Table 1 shows the laboratory investigations done during the 2 hospital admissions.

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American Journal of Case Reports eISSN: 1941-5923
American Journal of Case Reports eISSN: 1941-5923