Code | sex | weight | Hight | Age | Cr(mg/dL) (nl 0.6–1.0) | Na mEq/L (nl 135–155) | K mEq/L (nl 3.5–5.3) | Ca mg/dL (nl 8.6–10.2) | PH (nl 7.35–7.45) | HCO3 mEq/L (nl 22–26) | UrineCa/Cr > 0.2 | Defective gene | variant | Mode of detection | Final diagnosis |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1 | F | 4.5 | 60 | 0.5 | 0.5 | 126 | 2.4 | NA | 7.61 | 31 | 0.9 | CLCNKB | c.(?_-1)_(*1_?) del, p.0 | WES | Bartter syndrome |
2 | F | 3.7 | 65 | 0.5 | 1 | 124 | 2.2 | 10 | 7.57 | 48 | 3.5 | CLCNKB | c.(?_-1)_(*1_?) del, p.0 | PCR | Bartter syndrome |
3 | F | 5.1 | 64 | 0.5 | 0.6 | 125 | 2.7 | NA | 7.58 | 37 | 0.06 | CLCNKB | c.(?_-1)_(*1_?) del, p.0 | PCR | Bartter syndrome |
4 | M | 4.7 | 60 | 0.6 | 0.5 | 144 | 2.1 | NA | 7.66 | 35 | 0.1 | CLCNKB | c.(?_-1)_(*1_?) del, p.0 | WES | Bartter syndrome |
5 | M | 10 | 96 | 6 | 0.7 | 144 | 2 | 8 | 7.56 | 32 | 0.5 | ? | – | WES | – |
6 | M | 9 | 83 | 3 | 0.5 | 131 | 2.8 | 10 | 7.47 | 31 | 0.8 | CLCNKB | c.(?_-1)_(*1_?) del, p.0 | PCR | Bartter syndrome |
7 | F | 8.35 | 85 | 2.5 | 0.6 | 123 | 2.5 | 8 | 7.51 | 32 | 4.25 | CLCNKB | c.(?_-1)_(*1_?) del, p.0 | WES | Bartter syndrome |
8 | F | 7.4 | 76 | 2.5 | 0.5 | 125 | 2.1 | 7 | 7.65 | 39 | 4.75 | CLCNKB | c.(?_-1)_(*1_?)del, p.0 | PCR | Bartter syndrome |
9 | M | 3.2 | 63 | 0.5 | 0.5 | 134 | 3.4 | NA | 7.47 | 32 | NA | CLCNKB | c.(?_-1)_(*1_?)del, p.0 | PCR | Bartter syndrome |
10 | F | 4.6 | 60 | 0.9 | 0.5 | 138 | 3.2 | 10.7 | 7.52 | 27 | 3.6 | CLCNKB | c.(?_-1)_(*1_?) del, p.0 | PCR | Bartter syndrome |
11 | M | 5.7 | 75 | 0.4 | 0.5 | 134 | 3 | NA | 7.47 | 27 | NA | CLCNKB | c.(?_-1)_(*1_?)del, p.0 | PCR | Bartter syndrome |
12 | F | 7.25 | 60 | 3 | 1 | 135 | 2.4 | NA | 7.53 | 31 | 0.88 | CLCNKB | c.(?_-1)_(*1_?) del, p.0 | WES | Bartter syndrome |
13 | M | 5.2 | 67 | 1.3 | 0.4 | 126 | 2.5 | 8.2 | 7.56 | 32 | 0.54 | CLCNKB | c.(?_-1)_(*1_?) del, p.0 | WES | Bartter syndrome |
14 | M | 7 | 73 | 2.3 | 0.6 | 132 | 2.1 | 7 | 7.58 | 34 | 0.55 | CFTR | c.473G > A, p. (Ser158Asn) | WES | Cystic Fibrosis |
15 | F | 2.9 | 48 | 0.3 | 1 | 131 | 2.6 | 9.5 | 7.56 | 47 | NA | SLC26A3 | c.971 + 1G > T, p.? | WES | Conjenital chloride diarrea |
16 | M | NA | 53 | 1.6 | 0.4 | 140 | 3 | 10.2 | 7.5 | 30.5 | 0.5 | SLC26A4 | c.1226G > A, p. (Arg409His) | WES | Pendred syndrome |
17 | M | 5.5 | NA | 0.6 | 0.5 | 132 | 2.6 | 1.50 | 7.50 | 31.2 | NA | HSD11B2 | c.1120C > T, p.(Arg374*) | WES | Apparent mineralocorticoid excess |