Case | Symptoms | Age at diagnosis (months) | P pH | P Bicarbonate mEq/L | P K mEq/L | U pH | Nephro calcinosis |
---|---|---|---|---|---|---|---|
1.1 | Vomits, growth failure | 6 | 7.3 | 10.4 | 2.26 | 7 | Yes |
2.1 | Vomits, growth failure | 7 | 7.22 | 9.7 | 3 | 6.5 | Yes |
3.1 | Growth failure | 1.3 | 7.14 | 7 | 2.3 | 6 | Yes |
3.2 | Speech delay, growth failure, rickets | 36 | 7.21 | 12.3 | 2.7 | 7 | Yes |
4.1 | Dehydration | 1.3 | 7.21 | 10.4 | 4.1 | 6.5 | Yes |
5.1 | Vomits, diarrhea, growth failure | 3 | 7.3 | 6.9 | 4.06 | 7.5 | Yes |
5.2 | Growth failure, dehydration | 3.5 | 7.25 | 8.3 | 4.65 | 6 | Yes |
6.1 | Growth failure, fever | 3 | 7.34 | 12.4 | 3.82 | 7 | Yes |
7.1 | Loss of weight, dehydration, fever, vomits, diarrhea | 4 | 7.29 | 12.1 | 2.43 | 6 | No |
7.2 | Growth failure, dehydration, polyuria, urine infection | 11 | 7.17 | 8.5 | 2.9 | 7 | Yes |
8.1 | Fever, vomits, growth failure | 3.3 | 7.3 | 8.6 | 2.68 | 7 | Yes |
9.1 | Vomits, dehydration, vitamin D-resistant rickets | 1 | 7 | NA | 4.22 | 8 | Yes |
10.1 | Vomits, dehydration, leukocyturia | 3 | 7.3 | 11.4 | 2 | 7 | Yes |
10.2 | Dehydration, vomits | 6 | 7.4 | 14.5 | 3.2 | 6.5 | Yes |
11.1 | Diarrhea, vomits, polyuria, rickets | 16 | 7.32 | 11.6 | 3.12 | NA | NA |
12.1 | Vomits, dehydration, growth failure | 5 | 7.28 | NA | 2.4 | 7.5 | Yes |
13.1 | Vomits after each feeding | 1 | 7.23 | 11.3 | 7.2 | 7 | Yes |
14.1 | Dehydration, respiratory distress | 0.8 | 7.1 | 3.4 | 2 | 8 | Yes |
15.1 | Dehydration, vomits, feeding difficulties | 1.5 | 7.19 | 8.4 | 3.5 | 7 | Yes |
16.1 | Vomits, feeding difficulties, severe dehydration, diarrhea, vitamin D-resistant rickets, severe osteopenia | 18 | 7.18 | 9.6 | NA | 7.5 | Yes |
16.2 | Hypotonia, failure to thrive, severe vitamin D-resistant rickets, inability to walk, dumb | 17 | 7.15 | 9.4 | 4.1 | NA | Yes |
17.1 | Vomits, dehydration, respiratory infection, breathing difficulties | 0.9 | 7.29 | 12.5 | 3.11 | 8 | Yes |
18.1 | Dehydration, vomits, polyuria | 2 | 7.15 | 6.1 | 3.9 | 7 | Yes |
19.1 | Bronchiolitis and cough | 3 | 7.13 | 8.8 | 3.8 | 8 | No |
20.1 | Dehydration, axial hypotonia, hypotrophy | 2.3 | 7.39 | 9 | 2.2 | 8 | Yes |
6.27 (0.8–36)* | 7.23 ± 0.15** | 9.67 ± 0.62** | 3.3 ± 0.83** | 7 ± 0.67** | |||
*** (mEq/L) | 7.35-7.45 | 22-28 | 3.5-5 | 5.5-6.5 |