View source for Fanconi syndrome diagnostic study of choice

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{{Fanconi syndrome}}
{{CMG}}; {{AE}} {{VE}} 
== Overview ==
There is no single diagnostic study of choice for the diagnosis of Fanconi syndrome, but it can be diagnosed based on clinical presentation and laboratory tests.

== Diagnostic Study of Choice ==

=== Study of choice ===
* There is no single diagnostic study of choice for the diagnosis of Fanconi syndrome, but it can be diagnosed based on clinical presentation and laboratory tests<ref name="pmid29199190">{{cite journal| author=Karatzas A, Paridis D, Kozyrakis D, Tzortzis V, Samarinas M, Dailiana Z et al.| title=Fanconi syndrome in the adulthood. The role of early diagnosis and treatment. | journal=J Musculoskelet Neuronal Interact | year= 2017 | volume= 17 | issue= 4 | pages= 303-306 | pmid=29199190 | doi= | pmc=5749037 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=29199190  }}</ref><ref name=":0">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: 10.1080/21678707.2017.125956</ref>.
* Labratory findings are more fundamental than anything else to confirm the diagnosis. The laboratory tests usually are performed when<ref name="pmid13381735">{{cite journal| author=ENGLE RL, WALLIS LA| title=The adult Fanconi syndrome.  II.  Review of eighteen cases. | journal=Am J Med | year= 1957 | volume= 22 | issue= 1 | pages= 13-23 | pmid=13381735 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=13381735  }}</ref><ref>Igarashi T. (2014) Pediatric Fanconi Syndrome. In: Avner E., Harmon W., Niaudet P., Yoshikawa N., Emma F., Goldstein S. (eds) Pediatric Nephrology. Springer, Berlin, Heidelberg</ref>:
** The child patient presented with symptoms/signs of [[dehydration]],[[short stature]], [[growth failure]] and [[rickets]] .
** The adult patient presented with symptoms/signs of [[dehydration]],[[lethargy]],walking disabilities, bone pain and [[osteomalacia]].

===== Diagnostic results =====
The following results of Laboratory tests are confirmatory of Fanconi syndrome<ref name=":1">Fanconi G: Der fruehinfantile nephrotisch-glykosurische Zwergwuchs mit hypophosphataemischer Rachitis. Jahrbuch Kinderheilkunde 147 :299– 338,1936</ref><ref name=":2">Debre R, Marie J, Cleret F, Messimy R: Rachitisme tardif coexistant avec une nephrite chronique et une glycosurie. Arch Med Enfants 37 :597– 606,1934</ref><ref name=":3">McCune DJ, Mason HH, Clarke HT: Intractable hypophosphatemic rickets with renal glycosuria and acidosis (the Fanconi syndrome). Am J Dis Child 65 :81– 146,1943</ref><ref name="pmid29199190" />:
* Generalized [[aminoaciduria]] without elevation of plasma amino acids
* Low anion gap [[metabolic acidosis]] resulting from renal [[bicarbonate]] loss
* [[Phosphaturia]] without [[hyperphosphatemia]]
* [[Hypophosphatemia]]
* [[Glucosuria]] without [[hyperglycemia]]
* Low molecular weight [[proteinuria]] without respective elevations of plasma proteins

===== Sequence of Diagnostic Studies =====
The laboratory tests usually are performed when:
* The child patient presented with symptoms/signs of [[dehydration]],[[short stature]], [[growth failure]] and [[rickets]] .
* The adult patient presented with symptoms/signs of [[dehydration]],[[lethargy]],walking disabilities, bone pain and [[osteomalacia]].
=== Diagnostic Criteria ===
The diagnosis of Fanconi syndrome is basically made by labratory findings and the clinical presentation of the patients only lead physicians to investigate the lab tests. The definition of Fanconi syndrome has been quite confusingly in the literature as a definite diagnostic criteria has not been established<ref name="pmid18667737">{{cite journal| author=Kleta R| title=Fanconi or not Fanconi? Lowe syndrome revisited. | journal=Clin J Am Soc Nephrol | year= 2008 | volume= 3 | issue= 5 | pages= 1244-5 | pmid=18667737 | doi=10.2215/CJN.02880608 | pmc=4571153 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18667737  }}</ref><ref name=":0" />. 

The following results of the laboratory tests together are confirmatory of Fanconi syndrome<ref name=":3" /><ref name=":2" /><ref name=":1" /><ref name="pmid29199190" />; however, also in cases of one or more absence of these findings, the disease might have been called Fanconi syndrome in some literature and some interpreted then that they should not have<ref name="pmid18667737" />.
* Generalized [[aminoaciduria]] without elevation of plasma amino acids
* Low anion gap [[metabolic acidosis]] resulting from renal [[bicarbonate]] loss
* [[Phosphaturia]] without [[hyperphosphatemia]]
* [[Hypophosphatemia]]
* [[Glucosuria]] without [[hyperglycemia]]
* Low molecular weight [[proteinuria]] without respective elevations of plasma proteins

because of various [[pathophysiology]] of disease in patients, the definition of exact concentration limits of these ingredients is not practical and their deviation from the normal range is considered diagnostic. 
==References==
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