Kabuki syndrome: a challenge for the primary care provider.
Title | Kabuki syndrome: a challenge for the primary care provider. |
Publication Type | Journal Article |
Year of Publication | 2013 |
Authors | Crane B, Alpert PT, Cyrkiel D, Jauregui A |
Journal | J Am Assoc Nurse Pract |
Volume | 25 |
Issue | 10 |
Pagination | 522-6 |
Date Published | 2013 Oct |
ISSN | 2327-6924 |
Abstract | 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. |
DOI | 10.1002/2327-6924.12044 |
Alternate Journal | J Am Assoc Nurse Pract |
Citation Key | 1416 |
PubMed ID | 24170483 |
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