Fanconi syndrome natural history, complications and prognosis
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Vahid Eidkhani, M.D.
Overview
The symptomatic onset of Fanconi syndrome could occur at any age depending on the underlying etiology. Fanconi syndrome due to exogenous compounds toxicity usually develops gradually and during long-term exposures and probably occur most commonly in adults age group. Inherited forms of the disease mainly become symptomatic in childhood. Cystinosis is the most common genetic disease accompanying Fanconi syndrome and in almost 95% of cases develops clinical symptoms in the first year of life[1][2].
Natural History, Complications, and Prognosis
Natural History
- The symptomatic onset of Fanconi syndrome could occur at any age depending on the underlying etiology.
- Inherited forms of the disease, prominently cystinosis,Tyrosinemia, and Wilson disease are mainly presented in infancy and childhood.
- Fanconi syndrome due to exogenous compounds(e.g drugs, heavy metals) toxicity usually develops gradually and during long-term exposures and probably occur most commonly in adults age group.
Complications
- Common complications of Fanconi syndrome include[3][4]:
- Osteomalacia, Rickets, and musculoskeletal deformities.
- Growth failure & short stature
- Weakness, walking problems, and immobility
Prognosis
- Prognosis essentially varies according to the underlying cause, its severity, time of diagnosis and treatment start and follow-up of the patient.
- Overall, renal disease per se in patients of Fanconi syndrome with adequate and precise management is interpreted "might be controllable" from the literature[5][1][3].
- In patients with tyrosinemia, earlier presentation of the symptoms correlates with poorer survival rate[6].
- In Cystinosis, treatment with cysteamine vastly improves the overall prognosis of the patients and should start as soon as possible[1].
References
- ↑ 1.0 1.1 1.2 Emma F, Nesterova G, Langman C, Labbé A, Cherqui S, Goodyer P; et al. (2014). "Nephropathic cystinosis: an international consensus document". Nephrol Dial Transplant. 29 Suppl 4: iv87–94. doi:10.1093/ndt/gfu090. PMC 4158338. PMID 25165189.
- ↑ Enriko Klootwijk, Stephanie Dufek, Naomi Issler, Detlef Bockenhauer & Robert Kleta (2016)Pathophysiology, current treatments and future targets in hereditary forms of renal Fanconi syndrome,Expert Opinion on Orphan Drugs, 5:1, 45-54, DOI: 10.1080/21678707.2017.1259560
- ↑ 3.0 3.1 ENGLE RL, WALLIS LA (1957). "The adult Fanconi syndrome. II. Review of eighteen cases". Am J Med. 22 (1): 13–23. PMID 13381735.
- ↑ Hunt DO, Stearns G, McKinley JB, et al: Long-term study of family with Fanconi syndrome without cystinosis (de Toni-Debn!-Fanconi syndrome). Am J Med 40:492-510, 1966
- ↑ Santer R, Schneppenheim R, Suter D, Schaub J, Steinmann B (1998). "Fanconi-Bickel syndrome--the original patient and his natural history, historical steps leading to the primary defect, and a review of the literature". Eur J Pediatr. 157 (10): 783–97. PMID 9809815.
- ↑ van Spronsen FJ, Thomasse Y, Smit GP, Leonard JV, Clayton PT, Fidler V; et al. (1994). "Hereditary tyrosinemia type I: a new clinical classification with difference in prognosis on dietary treatment". Hepatology. 20 (5): 1187–91. PMID 7927251.