Table 1 Characteristics of infants with non-CAH salt-wasting forms of adrenal origin
Age at onset (days) | Sex | Ethnicity | Ancestry | Clinical presentation | Additional clinical features | pH | Nammol/L(135 –145) | K mmol/L(3.5 – 5.5) | Cl mmol/L(95–110) | Glucose mg/dl (50–110) | Blood pressure mmHg | ACTH pg/ml (5–55) | Cortisol mcg/dl (5–20) | Aldosterone pg/ml (50–900) | Renin pg/ml (5–270) | Gene | Mutation | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1 | 21 | M | Caucasian | Romanian | Salt wasting crisis, fever, fatigue, poor feeding | NR | 130 | 5.74 | 92 | 89 | 72/36 | 286 | 5.6 | 165 | 784 | NROB1 | P353LfsX387 | |
2 | 21 | M | Caucasian | Romanian | Poor feeding, dehydration, hyperpigmentation | NR | 127.2 | 5.9 | 95 | 48 | 79/40 | 356 | 6.5 | 56 | 668 | NROB1 | P353LfsX387 | |
3 | 3 | M | Caucasian | Romanian | Poor feeding | NR | 133 | 5.4 | 99 | 62 | 184 | 4.8 | 54 | 452 | NROB1 | P353LfsX387 | ||
4 | 8 | M | Caucasian | Romanian | Poor feeding, recurrent vomiting | NR | 7.27 | 127 | 6.91 | 99 | 66 | 176 | 14 | 528 | NROB1 | P353LfsX387 | ||
5 | 18 | Caucasian | Italian | Dehydration, failure to thrive, poor feeding | NR | 7.12 | 127 | 9.53 | 93 | 57 | 65/38 | 59.3 | 22.4 | >800 | 639 | SCNN1G | c.1294+5G>A, c.1295-10T>A | |
6 | 60 | F | Caucasian | Italian | failure to thrive, recurrent vomiting | NR | 7.43 | 124 | 6.1 | 94 | 68 | 73/40 | 19.1 | 14.9 | 98 | 826 | CYP11B2 | Q170X, E198D, V386A |
7 | 24 | F | Caucasian | Italian | failure to thrive, recurrent vomiting | NR | 7.38 | 120 | 6.72 | 99 | 69 | 72/35 | 15.8 | 5.7 | 255 | 1250 | CYP11B2 | p.T185I, p.E198D, p.V386A |
8 | 1 | M | Caucasian | Italian | Hypoglycemia, respiratory distress, hyperpigmentation | cholestatic jaundice | 7.27 | 126 | 3.77 | 97 | 50 | 70/35 | >1250 | <0.2 | 224 | 107 | MC2R | T159K, A233D |
9 | 1 | F | Caucasian | Italian | Hypoglycemia, poor feeding, recurrent vomiting, hyperpigmentaiton | cholestatic jaundice | 7.29 | 128 | 3.92 | 98 | 24 | 69/34 | 1248 | 0.49 | 181 | 181 | MC2R | T159K |
10 | 28 | M | Caucasian | Albanian | poor feeding, recurrent vomiting, fever | Urinary sepsis, right kidney hypoplasia | 7.30 | 129 | 7.56 | 97 | 52 | 80/40 | 23 | 13.1 | 933 | 456 | Transient PHA | |
11 | 90 | M | Caucasian | Romanian | poor feeding, hypotonia, recurrent vomiting, fever | Urinary sepsis, right renal pelvis distension | 7.31 | 122 | 7.34 | 96 | 53 | 80/43 | 43 | 12 | 989 | 563 | Transient PHA | |
12 | 180 | F | Caucasian | Italian | poor feeding, recurrent vomiting, diarrhea | Intrauterine growth retardation | 7.22 | 110 | 6.3 | 74 | 44 | 88/44 | >1250 | 2.91 | 155 | 677 | unknown | |
13 | 15 | M | Caucasian | Italian | Dehydration, failure to thrive, recurrent vomiting, hyperpigmentation | 46 XY,DSD, dysmorphic features, retinopathy, developmental delay | 7.23 | 122 | 6.9 | 89 | 43 | >1250 | 2.3 | 98 | 478 | unknown |