Неврологические и панкреатические осложнения часто встречаются у пациентов с врожденной гиперинсулинемией

Neurological, pancreatic complications common in patients with congenital hyperinsulinism Key takeaways: - Neurological and pancreatic complications are common in patients with congenital hyperinsulinism. - Existing treatments are not always curative. CHICAGO — Neurological and pancreatic complications are common in patients with congenital hyperinsulinism, according to a systematic review presented at ENDO 2026. “The goal of this work was to systematically synthesize the [congenital hyperinsulinism] literature and critically evaluate evidence that is often cited but derived from relatively small studies,” Brian K. Roberts, MD, chief medical officer of Rezolute, which is developing ersodetug for treatment of hyperinsulinism, told Healio. “We wanted to better understand the strength and consistency of the published data, align on definitions of disease-related complications and identify important evidence gaps that could inform future research.” Roberts and colleagues identified 72 studies of patients with congenital hyperinsulinism or neonates with general hypoglycemia published between January 2005 and May 2024. “In this particular work that we did, synthesizing the literature, you can see those fragmented definitions and the disparate outcomes across individual studies,” Roberts told Healio. “So that was part of the effort, to attempt to collate that, harmonize it and quantify outcomes better.” Among the studies, brain MRI or electroencephalography was abnormal in 11.8% to 88.9% of participants, according to the researchers. In the 47 studies of patients with congenital hyperinsulinism, with follow-up as long as 25.5 years, the rate of neurological impairment ranged from 14.3% to 88.9%, the rate of seizures/epilepsy ranged from 5% to 41.9%, the rate of visual impairment ranged from 11% to 13%, the rate of cognitive deficit ranged from 3% to 50%, the rate of cerebral palsy ranged from 12.5% to 15.4%, the rate of ADHD ranged from 3% to 20% and the rate of autism ranged from 1.4% to 9.4%, Roberts and colleagues found. They also found that mortality rates ranged from 2% to 27%, often confounded by treatment complications. Delayed diagnosis of hyperinsulinism was associated with elevated risk for severe brain injury or neurological sequelae, they found. In 18 studies of 706 participants, the rate of neurological sequelae was 38% (95% CI, 34%-42%) with significant heterogeneity (I2 = 64.9%), according to the researchers. In patients with focal congenital hyperinsulinism, pancreatectomy was curative for up to 97% of patients, but in patients with diffuse congenital hyperinsulinism, it was curative in less than 50% of patients, and diffuse congenital hyperinsulinism was associated with risk for repeat surgery (range, 4%-22%), perioperative complications (range, 3%-5%) and development of diabetes (> 90%), the researchers found. “These findings underscore the substantial unmet need for safe and effective medical therapies that could better control hypoglycemia and, ideally, reduce or even avoid the need for pancreatectomy and its associated lifelong consequences,” Roberts told Healio. “This outcomes study reveals that currently available treatments, whether they be intensive glucose administration, diazoxide or near-total pancreatectomy, do not adequately address the serious and unmet needs of congenital hyperinsulinism patients and their families. The development and approval of new safe and effective therapies to treat hypoglycemia is desperately needed.” For more information: Brian K. Roberts, MD, can be reached at [email protected].