From: Aldosterone signaling defect in young infants: single-center report and review
Investigation | Patient 1 | Patient 2 | Patient 3 | Patient 4 | Patient 5 |
---|---|---|---|---|---|
Age | 14 days | 14 days | 7 days | 21 days | 7 days |
Manifestation | Recurrent vomiting, diarrhea, poor feeding | Recurrent vomiting, diarrhea, poor feeding | Recurrent vomiting, poor feeding | Poor feeding | Poor feeding, failure to thrive |
Plasma Na [NR 135 ~ 145 mmol/L] | 130 | 130 | 132 | 115 | 131 |
Plasma K [NR 3.5 ~ 5.0 mmol/L] | 6.86 | 6.17 | 6.2 | 6.73 | 5.88 |
Plasma ACTH [NR 1.6 ~ 13.9 pmol/L] | 3.37 | 2.93 | 1.92 | 4.95 | 7.22 |
Plasma cortisol [NR 5 ~ 20μg/dl] | < 5 | 10.5 | 3.5 | n.a | 7.7 |
Plasma PRA [NRa] | 1019.2 | n.a | 1287 | high | High |
Plasma Ald [NRb] | 117.0 | n.a | 672.11 | 66.51 | 1566.79 |
Adrenal imaging | normal | normal | n.a | n.a | Hyperplasia |
Gene mutation | CYP11B2 Heterozygous c.1121G > A (p.R374Q), c.1486delC p.(L496fs) | CYP11B2 Heterozygous c.1121G > A (p.R374Q), c.1486delC p.(L496fs) | CYP11B2 Homozygous c.1303G > A p.(G435S) | CYP11B2 Heterozygous c.1200 + 1G > A, c.240-1G > T | NR3C2 Heterozygous c.1768C > T, p.(R590*) |
Diagnosis | ASD | ASD | ASD | ASD | PHA1 |