Table 2 Characteristics of infants with aldosterone defect non 21-OH CAH adrenal etiology
From: Aldosterone signaling defect in young infants: single-center report and review
No | Sex | Age at onset | Clinical presentation | Na mmol/L (135 ~ 145) | K mmol/L (3.5 ~ 5.0) | Diagnosis | Gene | Mutation |
|---|---|---|---|---|---|---|---|---|
1 | M | 1 m | Poor feeding | 130 | 6.3 | X-AHC | NROB1 | c.1168 + 1_1168 + 2dupGT |
2 | M | 10 d | Salt wasting crisis, hyperpigmentation | 120 | 5.8 | X-AHC | NROB1 | c.791_793delAGA,p.(K264del) |
3 | M | 15 d | Recurrent vomiting, hyperpigmentation | 130 | 5.0 | X-AHC | NROB1 | c.460A > T p.(K154*) |
4 | M | 10 d | Recurrent vomiting | 130 | 7.58 | X-AHC | NROB1 | c.332_333delCT p.(S111*) |
5 | M | 1 m | Failure to thrive, recurrent vomiting, diarrhea | 126 | 6.3 | X-AHC | NROB1 | c.1231_1234delCTCA p.(K411fs) |
6 | M | 5 d | Diarrhea, hyperpigmentation | 128 | 6.9 | X-AHC | NROB1 | c.332_333delCT p.(S111*) |
7 | M | 1 m | Poor feeding, failure to thrive, hyperpigmentation | 115 | 7.49 | X-AHC | NROB1 | E1-E2 del |
8 | M | 5 d | Vomiting, diarrhea, dehydration, hyperpigmentation | 110 | 3.0 | X-AHC | NROB1 | c.585_595del11 p.(Y97fs) |
9 | M | 1 m | Poor feeding | 134 | 6.57 | X-AHC | NROB1 | c.838delC p.(L280fs) |
10 | F (46,XY) | 1 m | Failure to thrive, hyperpigmentation | 132 | 7.2 | SF-1 mutation | NR5A1 | c.616-758del |
11 | M | 6 m | Vomiting, hyperpigmentation | 129 | 6.2 | LCAH | STAR | c.65C3C > T, p.(A218V) homozygous |
12 | F | 6 m | Adrenal crisis | 114 | 5.6 | LCAH | STAR | Heterozygous c.367G > A, p.(E123K) and c.465 + 2 T |