RESUMO
OBJECTIVES: Primary hyperparathyroidism (PHPT), whilst common in elderly populations, is rare in adolescents. Hereditary cases make up less than 10% of patients with PH. We report two patients with CDC73 mutation presenting in early adolescence. CASE PRESENTATION: Case 1: A 14-year-old patient was referred from an adolescent mental health unit with hypercalcaemia. Imaging revealed a parathyroid adenoma. Genetic testing of the patient showed a heterozygous deletion of CDC73. Case 2: A 10-year-old patient was admitted to the general paediatric ward with symptoms suggestive of hypercalcaemia. The patient was known to carry an autosomal dominant mutation of CDC73. Imaging of the parathyroid gland showed bilateral adenoma. CONCLUSIONS: We present two patients with CDC73 defects, who both presented with symptoms of hypercalcaemia. The cases highlight the difference in paediatric populations with PHPT who are often symptomatic at the time of diagnosis when compared to adult patients.
Assuntos
Hipercalcemia , Hiperparatireoidismo , Neoplasias das Paratireoides , Adolescente , Adulto , Idoso , Criança , Humanos , Hipercalcemia/genética , Hiperparatireoidismo/complicações , Hiperparatireoidismo/genética , Mutação , Neoplasias das Paratireoides/genética , Proteínas Supressoras de Tumor/genéticaRESUMO
BACKGROUND: Benefits of day case foot and ankle surgery include reduced hospital stay, cost savings, high patient satisfaction, quicker recovery with no increased complications. The preoperative foot and ankle group was set up in 2007 to reduce inpatient hospital stays and increase the rate of day case procedures. METHODS: We evaluated length of stay and physiotherapy intervention for all our patients during the first three months of 2007-2011. RESULTS: Median length of stay was statistically significant (p<0.05) in all groups apart from the ankle group. Day case surgery rates increased in all groups apart from hindfoot group but the result was only significant for forefoot and midfoot groups. CONCLUSION: The results show that the setting up our group has resulted in reduced inpatient stay, increase in day case surgery rates with significant cost savings.