Chronic Neutropenia in Children: A Single-Center Experience

To analyze the characteristics, etiology, diagnostic evaluation, management, follow-up, and outcomes of children with chronic neutropenia treated at a tertiary care pediatric hospital in Croatia.

We retrospectively reviewed the demographic, clinical, and laboratory data of 48 children (23 males and 25 females; median age 7.75 months [IQR 5.13-11.75]) diagnosed with chronic neutropenia between 2013 and 2021.

The median absolute neutrophil count (ANC) at presentation was 487/μL (IQR 198.5-837.5), and 52% of the patients had severe neutropenia. Autoimmune neutropenia (AIN) was diagnosed in 21 cases, chronic idiopathic neutropenia (CIN) in 26 cases, and neutropenia in the context of a genetic syndrome in one case. Antineutrophil antibodies were detected in 47% of the children tested. During follow-up, 23% received granulocyte-colony-stimulating factor (G-CSF), and 21% received antibiotics. The median follow-up duration was 21 months (IQR 12-32.75), during which 83% achieved spontaneous remission, with a median time to remission of 13.5 months. Lower ANC at diagnosis was associated with more frequent rehospitalizations, longer time to remission, and longer follow-up. No significant differences were found between AIN and CIN in terms of age, ANC at diagnosis, time to referral, or time to remission, although AIN cases were followed for a longer period.

Pediatric chronic isolated neutropenia, including AIN and CIN, generally follows a mild clinical course with a low incidence of severe infection. Most children achieve spontaneous remission within one year. Comprehensive genetic testing is essential in children with suspected congenital neutropenia and those with features suggestive of an underlying genetic syndrome. Adherence to European guidelines supports standardized diagnosis, follow-up, and management, thereby improving patient care.