Background Fanconi-Debré-de Toni syndrome(also known as Fanconi renotubular syndrome,or FRST)profoundly increased the understanding of the functions of the proximal convoluted tubule(PCT)and provided important in...Background Fanconi-Debré-de Toni syndrome(also known as Fanconi renotubular syndrome,or FRST)profoundly increased the understanding of the functions of the proximal convoluted tubule(PCT)and provided important insights into the pathophysiology of several kidney diseases and drug toxicities.Data sources We searched Pubmed and Scopus databases to find relevant articles about FRST.This review article focuses on the physiology of the PCT,as well as on the physiopathology of FRST in children,its diagnosis,and treatment.Results FRST encompasses a wide variety of inherited and acquired PCT alterations that lead to impairment of PCT reab-sorption.In children,FRST often presents as a secondary feature of systemic disorders that impair energy supply,such as Lowe's syndrome,Dent's disease,cystinosis,hereditary fructose intolerance,galactosemia,tyrosinemia,Alport syndrome,and Wilson's disease.Although rare,congenital causes of FRST greatly impact the morbidity and mortality of patients and impose diagnostic challenges.Furthermore,its treatment is diverse and considers the ability of the clinician to identify the correct etiology of the disease.Conclusion The early diagnosis and treatment of pediatric patients with FRST improve the prognosis and the quality of life.展开更多
文摘Background Fanconi-Debré-de Toni syndrome(also known as Fanconi renotubular syndrome,or FRST)profoundly increased the understanding of the functions of the proximal convoluted tubule(PCT)and provided important insights into the pathophysiology of several kidney diseases and drug toxicities.Data sources We searched Pubmed and Scopus databases to find relevant articles about FRST.This review article focuses on the physiology of the PCT,as well as on the physiopathology of FRST in children,its diagnosis,and treatment.Results FRST encompasses a wide variety of inherited and acquired PCT alterations that lead to impairment of PCT reab-sorption.In children,FRST often presents as a secondary feature of systemic disorders that impair energy supply,such as Lowe's syndrome,Dent's disease,cystinosis,hereditary fructose intolerance,galactosemia,tyrosinemia,Alport syndrome,and Wilson's disease.Although rare,congenital causes of FRST greatly impact the morbidity and mortality of patients and impose diagnostic challenges.Furthermore,its treatment is diverse and considers the ability of the clinician to identify the correct etiology of the disease.Conclusion The early diagnosis and treatment of pediatric patients with FRST improve the prognosis and the quality of life.
