背景:遗传性果糖不耐受或遗传性果糖血症是一种由醛缩酶B基因功能丧失引起的常染色体隐性代谢紊乱。这种疾病影响了2万人中的1人,通过坚持无果糖饮食构成一种罕见疾病,预后良好。尽管饮食管理,慢性病理学可能表现出来,强调早期诊断对减轻不良反应的重要性。然而,疾病的早期发现带来了重大挑战。
目的:我们的目的是根据患者症状收集有关该病理的鉴别诊断的相关信息,促进早期识别诊断算法的发展。
方法:对PubMed的实证研究进行了遵循PRISMA指南的系统综述,共包括35项研究。
结果:果糖不耐受患者可能会出现严重的餐后症状,如低血糖,呕吐,和腹胀.尽管治疗得当,慢性并发症,如脂肪肝,范可尼综合征,生长不足,和肠易激综合征可能出现。所提出的诊断算法旨在最小化这些不利过程。
结论:了解发病机制可以迅速诊断和预防慢性病。建立从儿科到成人医学的护理连续性至关重要,并且向非儿科内分泌学家传播信息对于治疗这种罕见疾病至关重要。
BACKGROUND: Hereditary fructose intolerance or hereditary fructosemia is an autosomal recessive metabolic disorder caused by a loss of function in the aldolase B gene. This disorder affects 1 in 20,000 people, constituting a rare disease with a favorable prognosis through adherence to a fructose-free diet. Despite dietary management, chronic pathology may manifest, underscoring the importance of early diagnosis to mitigate adverse effects. However, early detection of the disease poses significant challenges.
OBJECTIVE: Our aim was to compile pertinent information on the differential diagnosis of this pathology based on patient symptoms, facilitating the development of a diagnostic algorithm for early identification.
METHODS: A systematic review adhering to PRISMA guidelines was conducted on empirical studies from PubMed, encompassing a total of 35 studies.
RESULTS: Individuals with fructose intolerance may acutely experience postprandial symptoms such as hypoglycemia, vomiting, and abdominal distension. Despite proper treatment, chronic complications such as fatty liver, Fanconi syndrome, growth deficiency, and irritable bowel syndrome may arise. The proposed diagnostic algorithm aims to minimize these adverse processes.
CONCLUSIONS: Understanding the pathogenesis enables prompt diagnosis and prevention of chronicity. Establishing continuity of care from pediatric to adult medicine is crucial, and disseminating information to non-pediatric endocrinologists is imperative for managing this rare disease.