HI/HA Syndrome: Natural History and Patient Outcomes from Two Clinical Cohorts

66 patients from a medical record review and 15 from a patient registry provide data on the hyperinsulinism hyperammonemia syndrome. The dataset, published on figshare, includes findings on treatment persistence, epilepsy prevalence, and neurodevelopmental issues. It was authored by figshare admin karger and last updated in April 2026.

Use Cases

• Analyze treatment persistence for HI/HA syndrome based on reported diazoxide usage rates.
• Study neurodevelopmental comorbidities based on reported prevalence of epilepsy and other issues.
• Compare clinical outcomes between medical record cohorts and patient-driven registry data.
• Investigate the natural history of a rare disease based on longitudinal follow-up data.

Strengths

• Includes data from 81 total patients across two distinct cohorts.
• Reports specific prevalence rates for epilepsy (29-33%) and neurodevelopmental issues (64-73%).
• Provides median ages at follow-up for both cohorts (13.1 and 11.6 years).
• Released under a permissive CC-BY-4.0 license.

Limitations

• The dataset is very small at 29.8 KB, indicating limited scope.
• Column-level documentation is absent; field semantics must be inferred after download.
• Row count is unknown, which may limit suitability assessment.

Provenance

Source

Congenital Hyperinsulinism Centers at the Children’s Hospital of Philadelphia, Cook Children’s Medical Center, and the Congenital Hyperinsulinism International HI Global Registry.

Collection Method

Retrospective review of medical records and patient registry survey data.

Freshness

Last updated 2026-04-11 05:55:11; freshness should be verified.