Aldosterone signaling defect in young infants: single-center report and review

BMC Endocrine Disorders

Table 3 Characteristic of infants with hypoaldosterone and aldosterone resistance

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 [NR^a]	1019.2	n.a	1287	high	High
Plasma Ald [NR^b]	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

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
^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]
^bNewborn: 10-1800 pg/ml, infant 1-12 month 50-900 pg/ml

ISSN: 1472-6823