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Published on: September 6, 2017
Development of clinical paroxysmal nocturnal haemoglobinuria in children with aplastic anaemia
Atsushi Narita1, Hideki Muramatsu1, Yusuke Okuno1
1Department of Paediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan.
Abstract:
The clinical significance of paroxysmal nocturnal haemoglobinuria (PNH) in children with aplastic anaemia (AA) remains unclear. We retrospectively studied 57 children with AA between 1992 and 2010. During the follow-up, five patients developed clinical PNH, in whom somatic PIGA mutations were detected by targeted sequencing. The 10-year probability of clinical PNH development was 10·2% (95% confidence interval, 3·6-20·7%). Furthermore, the detection of minor PNH clones by flow cytometry at AA diagnosis was a risk factor for the subsequent development of clinical PNH. These patients with PNH clones at AA diagnosis should undergo periodic monitoring for potential clinical PNH development.
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