Pseudohypoaldosteronisms, report on a 10-patient series.
BACKGROUND
Type 1 pseudohypoaldosteronism (PHA1) is a salt-wasting syndrome caused by mineralocorticoid resistance. Autosomal recessive and dominant hereditary forms are caused by Epithelial Na Channel and Mineralocorticoid Receptor mutation respectively, while secondary PHA1 is usually associated with urological problems.


METHODS
Ten patients were studied in four French pediatric units in order to characterize PHA1 spectrum in infants. Patients were selected by chart review. Genetic, clinical and biochemistry data were collected and analyzed.


RESULTS
Autosomal recessive PHA1 (n = 3) was diagnosed at 6 and 7 days of life in three patients presenting with severe hyperkalaemia and weight loss. After 8 months, 3 and 5 years on follow-up, neurological development and longitudinal growth was normal with high sodium supplementation. Autosomal dominant PHA1 (n = 4) was revealed at 15, 19, 22 and 30 days of life because of failure to thrive. At 8 months, 3 and 21 years of age, longitudinal growth was normal in three patients who were given salt supplementation; no significant catch-up growth was obtained in the last patient at 20 months of age. Secondary PHA1 (n = 3) was diagnosed at 11, 26 days and 5 months of life concomitantly with acute pyelonephritis in three children with either renal hypoplasia, urinary duplication or bilateral megaureter. The outcome was favourable and salt supplementation was discontinued after 3, 11 and 13 months.


CONCLUSIONS
PHA1 should be suspected in case of severe hyperkalemia and weight loss in infants and need careful management. Pathogenesis of secondary PHA1 is still challenging and further studies are mandatory to highlight the link between infection, developing urinary tract and pseudohypoaldosteronism.
Belot
Alexandre
A
Département de pédiatrie, Hôpital Edouard-Herriot, 69437 Lyon cedex 03, France.
Ranchin
Bruno
B
Fichtner
Christine
C
Pujo
Lucie
L
Rossier
Bernard C
BC
Liutkus
Aurélia
A
Morlat
Claud
C
Nicolino
Marc
M
Zennaro
Maria C
MC
Cochat
Pierre
P
D053503:Epithelial Sodium Channels / Q000737:chemistry / Q000235:genetics; D005260:Female; D005799:Genes, Dominant; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008958:Models, Molecular; D009154:Mutation; D011546:Pseudohypoaldosteronism / Q000145:classification / Q000175:diagnosis* / Q000209:etiology / Q000235:genetics; D011704:Pyelonephritis / Q000150:complications; D018161:Receptors, Mineralocorticoid / Q000235:genetics; D012189:Retrospective Studies; D014551:Urinary Tract / Q000002:abnormalities
D053503:Epithelial Sodium Channels; D018161:Receptors, Mineralocorticoid