Recurrent KCNN4 p.Ser314Pro variant in a child with Gardos channelopathy: a 6-year follow-up.
Manuel Vargas-Pabón, Lorena García-Iglesias, Olga Castro-González et al.
✦ AI-curated · Sources linked
Case in brief
A child with Gardos channelopathy due to a recurrent KCNN4 p.Ser314Pro variant was followed for 6 years. The patient maintained a stable baseline but experienced hemolytic crises triggered by infections and exacerbated by bronchial asthma. Conservative management led to persistent iron redistribution without systemic overload.
What made this case unusual
This case is notable for being the first report of the p.Ser314Pro variant outside the Italian population, expanding its geographic relevance.
Diagnostic / clinical pearl
Clinicians should consider the potential for infection-triggered hemolytic crises in patients with Gardos channelopathy, especially those with concurrent respiratory conditions.
Why it matters
The case underscores the importance of early next-generation sequencing in diagnosing rare genetic conditions and the effectiveness of conservative management strategies.