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Fanconi syndrome is a disorder in which the [[Nephron#Proximal_tubule| proximal tubular]] function of the [[kidney]] is impaired, resulting in decreased reabsorption of [[electrolyte]]s and [[nutrient]]s back into the [[bloodstream]]. Compounds involved include [[glucose]], [[amino acid]]s, [[uric acid]], [[phosphate]] and [[bicarbonate]]. | Fanconi syndrome is a disorder in which the [[Nephron#Proximal_tubule| proximal tubular]] function of the [[kidney]] is impaired, resulting in decreased reabsorption of [[electrolyte]]s and [[nutrient]]s back into the [[bloodstream]]. Compounds involved include [[glucose]], [[amino acid]]s, [[uric acid]], [[phosphate]] and [[bicarbonate]]. | ||
The reduced reabsorption of [[bicarbonate]] results in type 2 or proximal [[renal tubular acidosis]], which may in some cases exist on its own, or more usually in combination with the Fanconi syndrome | The reduced reabsorption of [[bicarbonate]] results in type 2 or proximal [[renal tubular acidosis]], which may in some cases exist on its own, or more usually in combination with the Fanconi syndrome. | ||
In many cases, the disease is developed in the context of a multi-system [[genetic]] diseases(e.g [[Cystinosis]], [[Galactosemia]]). And in many others, high exposure to toxic substances(e.g [[heavy metals]], drugs) is discovered as the main risk factor. The disease can also develop as a consequence of other acquired diseases(e.g [[multiple myeloma]], PNH)<ref name="pmid232359532" />. | In many cases, the disease is developed in the context of a multi-system [[genetic]] diseases(e.g [[Cystinosis]], [[Galactosemia]]). And in many others, high exposure to toxic substances(e.g [[heavy metals]], drugs) is discovered as the main risk factor. The disease can also develop as a consequence of other acquired diseases(e.g [[multiple myeloma]], PNH)<ref name="pmid232359532">{{cite journal| author=Haque SK, Ariceta G, Batlle D| title=Proximal renal tubular acidosis: a not so rare disorder of multiple etiologies. | journal=Nephrol Dial Transplant | year= 2012 | volume= 27 | issue= 12 | pages= 4273-87 | pmid=23235953 | doi=10.1093/ndt/gfs493 | pmc=3616759 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23235953 }}</ref>. | ||
Patients mainly present with [[dehydration]], [[growth failure]], [[rickets]](children) and [[osteomalacia]](adults). | Patients mainly present with [[dehydration]], [[growth failure]], [[rickets]](children) and [[osteomalacia]](adults)<ref name=":0" /><ref>Hunt DD, Stearns G, McKinley JB, Froning E, Hicks P, Bonfiglio M. Long-term study of family with Fanconi syndrome without cystinosis (DeToni-Debré-Fanconi syndrome). The American Journal of Medicine. 1966 Apr 1;40(4):492-510.</ref>. | ||
It is named after [[Guido Fanconi]], a Swiss [[pediatrician]]; this may be a misnomer since Fanconi himself never identified it as a syndrome<ref>Fanconi G. Die nicht diabetischen Glykosurien und Hyperglykaemien des aelteren Kindes. Jahrbuch fuer Kinderheilkunde 1931; 133: 257–300</ref>. | It is named after [[Guido Fanconi]], a Swiss [[pediatrician]]; this may be a misnomer since Fanconi himself never identified it as a syndrome<ref name=":0">Fanconi G. Die nicht diabetischen Glykosurien und Hyperglykaemien des aelteren Kindes. Jahrbuch fuer Kinderheilkunde 1931; 133: 257–300</ref>. | ||
It should not be confused with [[Fanconi anemia]], a separate disease<ref name="pmid27571122">{{cite journal| author=Maher OM, Moonat HR| title=Fanconi Anemia and Fanconi Syndrome: Time to Correct the Misnomers. | journal=J Pediatr Hematol Oncol | year= 2016 | volume= 38 | issue= 7 | pages= 585 | pmid=27571122 | doi=10.1097/MPH.0000000000000673 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=27571122 }}</ref>. | It should not be confused with [[Fanconi anemia]], a separate disease<ref name="pmid27571122">{{cite journal| author=Maher OM, Moonat HR| title=Fanconi Anemia and Fanconi Syndrome: Time to Correct the Misnomers. | journal=J Pediatr Hematol Oncol | year= 2016 | volume= 38 | issue= 7 | pages= 585 | pmid=27571122 | doi=10.1097/MPH.0000000000000673 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=27571122 }}</ref>. | ||
Revision as of 10:28, 19 June 2018
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Fanconi syndrome is a disorder in which the proximal tubular function of the kidney is impaired, resulting in decreased reabsorption of electrolytes and nutrients back into the bloodstream. Compounds involved include glucose, amino acids, uric acid, phosphate and bicarbonate.
The reduced reabsorption of bicarbonate results in type 2 or proximal renal tubular acidosis, which may in some cases exist on its own, or more usually in combination with the Fanconi syndrome.
In many cases, the disease is developed in the context of a multi-system genetic diseases(e.g Cystinosis, Galactosemia). And in many others, high exposure to toxic substances(e.g heavy metals, drugs) is discovered as the main risk factor. The disease can also develop as a consequence of other acquired diseases(e.g multiple myeloma, PNH)[1].
Patients mainly present with dehydration, growth failure, rickets(children) and osteomalacia(adults)[2][3].
It is named after Guido Fanconi, a Swiss pediatrician; this may be a misnomer since Fanconi himself never identified it as a syndrome[2].
It should not be confused with Fanconi anemia, a separate disease[4].
References
- ↑ Haque SK, Ariceta G, Batlle D (2012). "Proximal renal tubular acidosis: a not so rare disorder of multiple etiologies". Nephrol Dial Transplant. 27 (12): 4273–87. doi:10.1093/ndt/gfs493. PMC 3616759. PMID 23235953.
- ↑ 2.0 2.1 Fanconi G. Die nicht diabetischen Glykosurien und Hyperglykaemien des aelteren Kindes. Jahrbuch fuer Kinderheilkunde 1931; 133: 257–300
- ↑ Hunt DD, Stearns G, McKinley JB, Froning E, Hicks P, Bonfiglio M. Long-term study of family with Fanconi syndrome without cystinosis (DeToni-Debré-Fanconi syndrome). The American Journal of Medicine. 1966 Apr 1;40(4):492-510.
- ↑ Maher OM, Moonat HR (2016). "Fanconi Anemia and Fanconi Syndrome: Time to Correct the Misnomers". J Pediatr Hematol Oncol. 38 (7): 585. doi:10.1097/MPH.0000000000000673. PMID 27571122.