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Inherited Fanconi syndrome.
- Source :
-
World journal of pediatrics : WJP [World J Pediatr] 2023 Jul; Vol. 19 (7), pp. 619-634. Date of Electronic Publication: 2023 Feb 02. - Publication Year :
- 2023
-
Abstract
- 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.<br />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.<br />Results: FRST encompasses a wide variety of inherited and acquired PCT alterations that lead to impairment of PCT reabsorption. 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.<br />Conclusion: The early diagnosis and treatment of pediatric patients with FRST improve the prognosis and the quality of life.<br /> (© 2023. Children's Hospital, Zhejiang University School of Medicine.)
Details
- Language :
- English
- ISSN :
- 1867-0687
- Volume :
- 19
- Issue :
- 7
- Database :
- MEDLINE
- Journal :
- World journal of pediatrics : WJP
- Publication Type :
- Academic Journal
- Accession number :
- 36729281
- Full Text :
- https://doi.org/10.1007/s12519-023-00685-y