Hook Effect: A Pitfall Leading to Misdiagnosis of Hypoaldosteronism in an Infant with Pseudohypoaldosteronism
HORMONE RESEARCH IN PAEDIATRICS, cilt.74, sa.1, ss.72-75, 2010 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 74 Sayı: 1
- Basım Tarihi: 2010
- Doi Numarası: 10.1159/000281404
- Dergi Adı: HORMONE RESEARCH IN PAEDIATRICS
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Sayfa Sayıları: ss.72-75
- Anahtar Kelimeler: Hook effect, Misdiagnosis, Hypoaldosteronism, 2-SITE IMMUNORADIOMETRIC ASSAY, ALDOSTERONE, BIOSYNTHESIS, PROLACTIN, CYP11B2, TYPE-1, GENE
- Erciyes Üniversitesi Adresli: Evet
Özet
We report herein the case of a premature infant who presented with failure to thrive, hyponatremia, hyperkalemia and metabolic acidosis. Initial serum hormone profiling suggested isolated hypoaldosteronism (aldosterone: 0.01 pg/ml, normal range: 50-900 pg/ml). A gas chromatography-mass spectrometry spot urinary steroid profile showed grossly elevated levels of 18-hydroxy-tetrahydro-11-dehydrocorticosterone (18-hydroxy-THA: 5,893 mu g/l; normal upper limit 36 mu g/l) and tetrahydroaldosterone (TH-Aldo: 5,749 mu g/l; normal upper limit 36 mu g/l) which are aldosterone precursor metabolite and aldosterone metabolite, respectively. Thus, aldosterone synthase deficiency was excluded and pseudohypoaldosteronism (PHA) was suggested. A repeated test after dilution of the serum revealed a very high level of aldosterone (6,490 pg/ml), confirming the diagnosis of PHA in this case. Copyright (C) 2010 S. Karger AG, Basel