LITMIR.BIZ

Скачать книгу

17]. Some studies reported normal resting [46] and 24-hour BP profiles [47] and others a slight increase in either diurnal or both diurnal and nocturnal systolic BP, compared to matched controls [15, 48]. Classic CAH children have been shown to have a higher prevalence of elevated systolic BP and an absent physiological nocturnal systolic BP nadir on 24-h ambulatory monitoring [46]. Careful fludrocortisone dosing, assessment of renin or plasma renin activity and accurate BP measurement are indispensable to avoid iatrogenic hypertension in children with CAH. There are minimal data available on the prevalence of hypertension in adult patients with CAH. In a recent epidemiological Swedish registry study, an increased frequency of hypertension in CAH patients has been shown, but when analyzing the different subgroups, only SV females had an increased BP [21]. This was in accordance with a recent study showing that adult males with classic CAH have a rather low BP compared with healthy men [34].

      In this intricate scenario, it is reasonable to expect a high CV risk profile in CAH patients. However, the impact of these risk factors on the vascular system has never been systematically ascertained. The long-term outcomes in CAH patients have recently been studied using the Swedish national CAH registry [20]. The hazard ratio of death was 2.3 (1.2–4.3) in males and 3.5 (2.0–6.0) in females. The causes of death were adrenal crisis (42%), CV diseases (32%), cancer (16%), and suicide (10%). Interestingly, the same team analyzed CV and metabolic morbidity in CAH patients [21]. This study showed an increase in both CV and metabolic disorders. Separate analyses of the individual diseases showed higher frequencies of hypertension, dyslipidemia and atrial fibrillation in CAH patients [21]. Obesity was consistently increased in all subgroups. However, the nonobese patients with CAH were similarly affected as the entire CAH cohort. There was also an increased frequency of obstructive sleep apnea in this CAH cohort. Similarly, the frequency of diabetes was increased, especially in females with the SV (I172N genotype) or nonclassic phenotype. An increased frequency of venous thromboembolic events was also reported. CAH is therefore associated with higher CV risk factors and probably with excess CV and metabolic morbidity. Some subgroups of patients seem to be more affected.

      Thus, a regular and long-term follow-up of CAH patients is needed, along with lifestyle interventions, which must be introduced from childhood and continued into adulthood, to limit the onset of weight gain and obesity, to screen for diabetes, other metabolic disorders, and CV risk factors. Close monitoring of GC doses is important during the whole life, to avoid these complications.

      Bone Mineral Density

Osteoporosis has been an understandable concern for children and adult patients with CAH who may receive or have received supraphysiological doses of GCs [49–51]. Chronic GC therapy is known to generate bone loss in many ways: a direct suppression of osteoblastic activity and an inhibition of digestive calcium absorption with secondary hyperparathyroidism and increased bone resorption by osteoclasts [50]. GCs also lead to an inhibition of intestinal calcium absorption and an increase in renal calcium excretion leading to secondary hyperparathyroidism [50]. Some previous reports on BMD in adult CAH patients showed no significant differences in BMD between patients with CAH and controls, but others found a lower BMD in all or certain subpopulations of CAH patients [49–51]. These reports differ with respect to age selections and GC regimens. In reports documenting the BMD reduction, this outcome has been attributed to an accumulated effect of prolonged exposure to excess GCs during infancy and childhood. We conducted a trial to establish the role of the total cumulative GC dose on BMD and showed a negative relationship between total cumulative GC dose and lumbar and femoral BMD [51]. Women might benefit from the preserving effect of estrogens compared to men. In light of this, physicians should bear in mind the potential consequences of GCs on bone by adjusting the treatment and improving clinical and biological surveillance from infancy. CAH patients should thus be considered at risk for osteoporosis and fractures, and physicians have to check systematically BMD in adult CAH patients. Osteoporosis prophylaxis such as physical activities, calcium and vitamin D supplementation should be implemented.

      Health-Related QoL

QoL in adult patients with CAH has been variously reported [52–54]. The reason for this heterogeneity in QoL reporting for CAH adults is debated but could relate to variables including treatment regimen, health care provision in different countries, and genetics. We conducted a study to report on the impact of transition and specialist medical care on QoL in CAH patients [55]. We found that global QoL was not different in patients with or without transition but was better in adult CAH patients with a regular medical follow-up and a successful transition. In our study, almost a third of the CAH patients were lost to follow-up in adulthood, despite a regular care in a tertiary medical center during childhood. We also showed that transition was closely linked to regular medical care during adulthood. It reinforces the concept of a well-organized transition [56, 57].

      Assessment of Adolescents and Adults during Transition from Pediatric Care

      The management of adolescents with CAH presents unique challenges [56, 57]. The organization of transition is therefore important in order to support and encourage these patients in this stressful period. The major treatment goals during transition from pediatric to adult care are to allow a long-term follow-up of this chronic disease, to ensure that the CAH patient understands the issues of follow-up in adulthood, in order to minimize the long-term complications of GC therapy, to maintain fertility, and to optimize QoL [25]. Pediatric endocrine care of CAH patients is delivered through specialist services, and the recommendation is that patients with CAH should remain within specialist services as adults. The goal of transition is also not to lose follow-up. Transition of care is also a time when some patients stop adherence to their medication [56, 57]. Very few studies have examined transitional care and its determinants in real life. An assessment of a single center’s experience in the UK of transitioning patients with CAH to specialist adult services has highlighted that further work is required to improve health status at transfer and engagement with adult services [22]. Indeed, 50% of patients with CAH had poor biochemical control or adverse clinical consequences, and

Скачать книгу