Nursing Care Plan for Patients with Hajdu–Cheney Syndrome

Jonathan Cortés-Martín, Lourdes Díaz-Rodríguez, Beatriz Piqueras-Sola, Juan Carlos Sánchez-García, María José Menor-Rodríguez and Raquel Rodríguez-Blanque
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Jonathan Cortés-Martín: Research Group CTS1068, Andalusia Research Plan, Junta de Andalucía, 18014 Granada, Spain
Lourdes Díaz-Rodríguez: Research Group CTS1068, Andalusia Research Plan, Junta de Andalucía, 18014 Granada, Spain
Beatriz Piqueras-Sola: Research Group CTS1068, Andalusia Research Plan, Junta de Andalucía, 18014 Granada, Spain
Juan Carlos Sánchez-García: Research Group CTS1068, Andalusia Research Plan, Junta de Andalucía, 18014 Granada, Spain
María José Menor-Rodríguez: Subdirectora de Humanización y Atención al Ciudadano, Área Sanitaria Santiago-Barbanza, 15706 Santiago de Compostela, Spain
Raquel Rodríguez-Blanque: Research Group CTS1068, Andalusia Research Plan, Junta de Andalucía, 18014 Granada, Spain

IJERPH, 2022, vol. 19, issue 12, 1-19

Abstract: Hajdu–Cheney syndrome is a rare genetic disease. Its main features include phenotypic variability, age-dependent progression and the presence of acroosteolysis of the distal phalanges and generalized osteoporosis, which have significant disabling potential. Currently, there is no effective curative treatment, so nursing care is essential to ensure the maintenance of the quality of life of these patients. The main objective of this study was to establish a specific standardized nursing care plan using the NANDA–NIC–NOC taxonomy. The application of a care plan as such would improve the quality of life of patients affected by this rare disease, will contribute to increasing healthcare professionals’ knowledge on this matter and will support future studies on this disease.

Keywords: rare disease; Hajdu–Cheney syndrome; nursing care plan; acroosteolysis; NOTCH2; clinical practice; healthcare (search for similar items in EconPapers)
JEL-codes: I I1 I3 Q Q5 (search for similar items in EconPapers)
Date: 2022
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