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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
  1. M male, F female, d days, m months, X-AHC X-linked adrenal hypoplasia congenita, LCAH lipoid congenital adrenal hyperplasia