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Kabuki syndrome: a challenge for the primary care provider
Bonnie Crane1, Patricia T Alpert, Dianne Cyrkiel
1(Pediatric Clinical Education Coordinator), Sunrise Children's Hospital, Las Vegas, Nevada, (Associate Professor & Chair of the Physiologic Department), (Instructor), School of Nursing, University of Nevada, Las Vegas, Nevada.
Insights
Kabuki syndrome, a rare genetic disorder affecting 1 in 32,000 births, presents diagnostic challenges due to subtle early signs. Early recognition and coordinated care by nurse practitioners are crucial for managing this condition.
Area of Science:
- Genetics
- Pediatrics
- Rare Diseases
Background:
- Kabuki syndrome is a rare genetic disorder with variable expressivity.
- Diagnosis can be delayed due to subtle initial physical features.
Observation:
- Presents a case study of a pediatric patient with Kabuki syndrome.
- Utilizes current literature from medical databases for comprehensive analysis.
Findings:
- Kabuki syndrome occurs in approximately 1 in 32,000 births.
- Diagnosis often requires prolonged evaluation due to lack of specific tests and evolving clinical signs.
- Disease severity significantly varies among affected individuals.
Implications:
- Enhanced understanding improves nurse practitioner (NP) primary care for Kabuki syndrome patients.
- NPs play a vital gatekeeper role in coordinating specialist care.
- Monitoring caregiver burden and sibling impact is essential for holistic family support.
Purpose:
Using a case format, the pathogenesis, clinical manifestations, diagnosis, and management of Kabuki syndrome, a rare genetic condition, is presented. Nurse practitioners (NPs) may encounter patients presenting to the primary care setting with this rare syndrome; understanding this condition may help them to better care for these patients.
Data Source:
A case presentation of a pediatric patient supported by the currently available literature from multiple health and medial databases.
Conclusion:
Kabuki syndrome is a rare phenomenon that occurs in 1 in every 32,000 births. A diagnosis of this syndrome may take several months to years because there are no specific tests, and the physical features may be subtle at birth, becoming more pronounced over a period of time during childhood. The degree of disease severity varies widely.
Implications For Practice:
Understanding this syndrome increases the NP's ability to provide primary care to affected patients and their families. Management of this condition requires the NP take on the role of gatekeeper, so timely coordination of specialty or subspecialty services is provided. Special consideration should be given to monitoring caregiver fatigue and impact on siblings so family members can be directed to the appropriate support services.
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