1Leeds General Infirmary, Leeds, UK; 2Bradford Royal Infirmary, Bradford, UK; 3Airedale General Hospital, Airedale, UK.
Background: Type 1 pseudohypoaldosteronism (PHA) is characterised by resistance to aldosterone action, resulting in salt wasting, hyperkalaemia and metabolic acidosis in the neonatal period. Type 1 PHA can be classified as Renal PHA (autosomal dominant (AD)), and the more severe Multiple target organ defect / systemic PHA (autosomal recessive (AR)). The aim of this study was to ascertain the incidence of PHA, and characterise mode of presentation, management and clinical outcomes of such patients presenting to a UK tertiary centre.
Methods: Case notes of newly diagnosed infants presenting with PHA were retrospectively reviewed from January 2006 to December 2009.
Results: Six patients were diagnosed with PHA. Initial presentation ranged from 4 to 28 days of age. At presentation all subjects had significant hyperkalaemia and hyponatraemia. Initial management consisted of fluids and use of glucocorticoids and mineralocorticoids until the diagnosis was elucidated. Subsequent results revealed a plasma aldosterone range of 12 580–83 390 pmol/l and plasma renin activity range of 41.3–>250 nmol/l per h. Following therapy, these returned to normal values. Four of the patients are likely to have AD PHA and were managed with sodium supplements and initially required low potassium milk. Two patients have AR PHA and required intensive and prolonged electrolyte and feeding support with low potassium feeds and significant sodium supplementation. One of the patients with AR PHA has a confirmed mutation on the SCNN1A gene. The birth rate in the area studied is approximately 42 000/year, giving a PHA incidence of 1 in 21 000.
Conclusion: All infants presenting with hyperkalaemia, hyponatraemia and weight loss should have an assessment for adrenal function including mineralocorticoid status. The AD form responds well to salt supplementation whereas infants with AR PHA are prone to frequent episodes of electrolyte imbalance.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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