Úbeda Félix, Santander Sonia, Luesma María José
Department of Human Anatomy and Histology, University of Zaragoza, 50009 Zaragoza, Spain.
Department of Pharmacology, Physiology, Legal and Forensic Medicine, University of Zaragoza, 50009 Zaragoza, Spain.
Diseases. 2024 Feb 23;12(3):44. doi: 10.3390/diseases12030044.
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.
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.
A systematic review adhering to PRISMA guidelines was conducted on empirical studies from PubMed, encompassing a total of 35 studies.
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.
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.
遗传性果糖不耐受或遗传性果糖血症是一种常染色体隐性代谢紊乱疾病，由醛缩酶B基因功能丧失引起。这种疾病在每20000人中影响1人，是一种通过坚持无果糖饮食预后良好的罕见疾病。尽管进行了饮食管理，但仍可能出现慢性病理表现，这凸显了早期诊断以减轻不良影响的重要性。然而，该疾病的早期检测面临重大挑战。
我们的目的是根据患者症状汇编有关这种病理的鉴别诊断的相关信息，以促进早期识别诊断算法的开发。
按照PRISMA指南对来自PubMed的实证研究进行了系统综述，共纳入35项研究。
果糖不耐受个体可能会急性出现餐后症状，如低血糖、呕吐和腹胀。尽管进行了适当治疗，但仍可能出现慢性并发症，如脂肪肝、范可尼综合征、生长发育迟缓以及肠易激综合征。所提出的诊断算法旨在尽量减少这些不良过程。
了解发病机制有助于及时诊断和预防慢性病。建立从儿科到成人医学的连续护理至关重要，向非儿科内分泌学家传播信息对于管理这种罕见疾病势在必行。
