Servicio de Farmacia, Hospital Universitario Infanta Leonor, Madrid, España; Asociación de Afectados por Intolerancia Hereditaria a la Fructosa (AAIHF), España.
Servicio de Farmacia, Hospital Universitario Infanta Leonor, Madrid, España.
Endocrinol Diabetes Nutr (Engl Ed). 2020 Apr;67(4):253-262. doi: 10.1016/j.endinu.2019.06.005. Epub 2019 Aug 7.
Hereditary fructose intolerance is a metabolic disease due to an aldolase B deficiency. Our objective was to ascertain the social and health care needs of those with this deficiency.
A prospective, observational study was performed. A survey of social and health care needs was conducted to hereditary fructose intolerance patients living in Spain.
Most patients had been diagnosed, mainly by genetic analysis in children and based on fructose overload in adults. Population surveyed had no sequelae (72.34%) or disability (64%), and 83.33% of children and 52.38% of adults were taking drugs (p <.05) (2.06 drugs on average). Most patients had attended medical visits in the past two years, mainly in metabolic disease units (42.5%) and/or nutrition units (42.5%), but less than a half attended reference centers (mostly children [p <0.05]). Although 48% were satisfied with health care, they felt discriminated in recreational activities, school, health and/or daily activities. The most reliable sources of information were the specialized care physician (69.39%) and patients' association (59.18%). Fifty-five percent reported no problem in any quality of life dimension, although some had problems in daily activities, pain, and anxiety.
Although hereditary fructose intolerance is less disabling than other rare diseases, it is important to know the needs of those who suffer from it. Although time to diagnosis has shortened, the poorer health care and satisfaction with it perceived in adults makes it necessary to emphasize the needs of this population, and the critical need of training and information of health care professionals.
遗传性果糖不耐受是一种由于醛缩酶 B 缺乏引起的代谢疾病。我们的目的是确定患有这种缺陷的人的社会和医疗保健需求。
进行了一项前瞻性、观察性研究。对居住在西班牙的遗传性果糖不耐受患者进行了社会和医疗保健需求调查。
大多数患者已被诊断出，主要是通过儿童的基因分析，并根据成人的果糖过载来诊断。调查人群无后遗症（72.34%）或残疾（64%），83.33%的儿童和 52.38%的成人正在服用药物（p<0.05）（平均 2.06 种药物）。大多数患者在过去两年中都进行过医疗访问，主要是在代谢疾病科（42.5%）和/或营养科（42.5%），但不到一半的患者去了参考中心（主要是儿童[P<0.05]）。尽管 48%的人对医疗保健感到满意，但他们在娱乐活动、学校、健康和/或日常活动中感到受到歧视。最可靠的信息来源是专科护理医生（69.39%）和患者协会（59.18%）。55%的人报告在任何生活质量维度上都没有问题，尽管有些人在日常生活、疼痛和焦虑方面存在问题。
尽管遗传性果糖不耐受的致残性低于其他罕见疾病，但了解患者的需求很重要。尽管诊断时间缩短了，但成年人对医疗保健的满意度和满意度较低，这使得有必要强调这一人群的需求，以及培训和信息的关键需求。医疗保健专业人员。
