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Table 3 Characteristic of infants with hypoaldosterone and aldosterone resistance

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
  1. Na sodium, K potassium, PRA plasma renin activity, ACTH Adrenocorticotropic hormone, Ald Aldosterone, n.a not available, NR normal range, Age age at presentation, ASD aldosterone synthase deficiency, PHA1 pseudohypoaldosteronism type 1
  2. aAdult: 4-24 pg/ml, Neonatal renin is high, which can be 2.5–20 times higher than that of adults, and these values slowly decline but high values can be seen up until the age of 5 years [10]
  3. bNewborn: 10-1800 pg/ml, infant 1-12 month 50-900 pg/ml