diabetes mellitus, transient neonatal, 1

Diabetes mellitus, transient neonatal, 1 is described as a genetic blood disorder in which abnormal hemoglobin causes red blood cells to become rigid and sickle-shaped. The condition is associated with variants in the ZFP57 gene and is inherited in an autosomal dominant manner. Affected newborns often present early with symptoms including hyperglycemia, dehydration, and growth-related issues. Prevalence estimates remain unknown, and individual experiences can vary considerably.

Patients with this condition often exhibit a multisystem clinical presentation. In the neonatal period, many are small for gestational age, experience dehydration, hyperglycemia, intrauterine growth retardation, and hypoinsulinemia. Transient neonatal diabetes mellitus, along with features such as macroglossia and umbilical hernia, are frequent early findings. Other manifestations observed in a subset of individuals include abnormal heart morphology, neurodevelopmental delay with cognitive and developmental implications, limb and kidney abnormalities, irregularities of the urinary system, hearing impairment, hypothyroidism, seizures, hypotonia, and failure to thrive. Not all individuals experience all features, and severity varies considerably.

This condition is linked to pathogenic variants in the ZFP57 gene, which is involved in regulating gene expression. It is inherited in an autosomal dominant pattern, meaning that a single altered copy of the gene can lead to the disorder and that an affected individual has a 50% chance of passing the variant to their offspring. Given the implications for family members, genetic counseling is recommended to help clarify risks and guide further testing.

Currently, management focuses on supportive care and symptom relief. Treatment is tailored to the individual and typically involves a multidisciplinary team that addresses both immediate issues and long-term health needs. Regular surveillance is an essential part of long-term care, helping to identify potential complications early. Patients and families are encouraged to discuss treatment options with their healthcare team and to seek genetic counseling for further guidance on managing this condition.

Outcomes for individuals with this condition vary widely, with the clinical course influenced by symptom severity, age at diagnosis, and access to comprehensive care. With current standards of care, many individuals benefit from interventions that help manage symptoms and improve quality of life. Outcomes described in medical literature continue to evolve as standards of care improve, making ongoing monitoring and support crucial. Families are encouraged to engage with genetic counseling and specialist services to better understand and manage the condition over time.

Clinical trials are underway exploring new treatment approaches for this condition. Individuals interested in clinical trials can search ClinicalTrials.gov or consult their care team about eligibility.