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{{Fanconi syndrome}}
{{Fanconi syndrome}}
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{{CMG}}; {{AE}} {{VE}}  
== Overview ==
== 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 ==
== Diagnostic Study of Choice ==


=== Study of choice ===
=== Study of choice ===
* [Name of the investigation] is the gold standard test for the diagnosis of [disease name].
* 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>.
* The following result of [gold standard test] is confirmatory of [disease name]:
* 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>:
** Result 1
** The child patient presented with symptoms/signs of [[dehydration]],[[short stature]], [[growth failure]] and [[rickets]] .
** Result 2
** The adult patient presented with symptoms/signs of [[dehydration]],[[lethargy]],walking disabilities, bone pain and [[osteomalacia]].
* The [name of the investigation] should be performed when:
** The patient presented with symptoms/signs 1. 2, 3.
** A positive [test] is detected in the patient.
* [Name of the investigation] is the gold standard test for the diagnosis of [disease name].
* The diagnostic study of choice for [disease name] is [name of the investigation].
* There is no single diagnostic study of choice for the diagnosis of [disease name].
* There is no single diagnostic study of choice for the diagnosis of [disease name], but [disease name] can be diagnosed based on [name of the investigation 1] and [name of the investigation 2].
* [Disease name] is mainly diagnosed based on clinical presentation.
* Investigations:
** Among patients who present with clinical signs of [disease name], the [investigation name] is the most specific test for the diagnosis.
** Among patients who present with clinical signs of [disease name], the [investigation name] is the most sensitive test for diagnosis.
** Among patients who present with clinical signs of [disease name], the [investigation name] is the most efficient test for diagnosis.
 
==== The comparison of various diagnostic studies for [disease name] ====
{|
|- style="background: #4479BA; color: #FFFFFF; text-align: center;"
! style="background: #4479BA; color: #FFFFFF; text-align: center;" | Test
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Sensitivity
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Specificity
|-
! style="background: #696969; color: #FFFFFF; text-align: center;" |Test 1
| style="background: #DCDCDC; padding: 5px; text-align: center;" |✔
| style="background: #DCDCDC; padding: 5px; text-align: center;" |...%
|-
! style="background: #696969; color: #FFFFFF; text-align: center;" |Test 2
| style="background: #DCDCDC; padding: 5px; text-align: center;" |...%
| style="background: #DCDCDC; padding: 5px; text-align: center;" |✔
|}
<small> ✔= The best test based on the feature </small>


===== Diagnostic results =====
===== Diagnostic results =====
The following result of [investigation name] is confirmatory of [disease name]:
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" />:
* Result 1
* Generalized [[aminoaciduria]] without elevation of plasma amino acids
* Result 2
* 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 =====
===== Sequence of Diagnostic Studies =====
The [name of investigation] should be performed when:
The laboratory tests usually are performed when:
* The patient presented with symptoms/signs 1, 2, and 3 as the first step of diagnosis.
* The child patient presented with symptoms/signs of [[dehydration]],[[short stature]], [[growth failure]] and [[rickets]] .
* A positive [test] is detected in the patient, to confirm the diagnosis.
* The adult patient presented with symptoms/signs of [[dehydration]],[[lethargy]],walking disabilities, bone pain and [[osteomalacia]].
 
=== Diagnostic Criteria ===
=== Diagnostic Criteria ===
* Here you should describe the details of the 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" />.  
*Always mention the name of the criteria/definition you are about to list (e.g. modified Duke criteria for the diagnosis of endocarditis / 3rd universal definition of MI) and cite the primary source of where this criteria/definition is found.
*Although not necessary, it is recommended that you include the criteria in a table. Make sure you always cite the source of the content and whether the table has been adapted from another source.
*Be very clear as to the number of criteria (or threshold) that needs to be met out of the total number of criteria.
*Distinguish criteria based on their nature (e.g. clinical criteria / pathological criteria/ imaging criteria) before discussing them in details.
*To view an example (endocarditis diagnostic criteria), click [[Endocarditis diagnosis|here]]
*If relevant, add additional information that might help the reader distinguish various criteria or the evolution of criteria (e.g. original criteria vs. modified criteria).
*You may also add information about the sensitivity and specificity of the criteria, the pre-test probability, and other figures that may help the reader understand how valuable the criteria are clinically.
* [Disease name] is mainly diagnosed based on clinical presentation. There are no established criteria for the diagnosis of [disease name].
* There is no single diagnostic study of choice for [disease name], though [disease name] may be diagnosed based on [name of criteria] established by [...].
 
* The diagnosis of [disease name] is made when at least [number] of the following [number] diagnostic criteria are met: [criterion 1], [criterion 2], [criterion 3], and [criterion 4].
* The diagnosis of [disease name] is based on the [criteria name] criteria, which includes [criterion 1], [criterion 2], and [criterion 3].
 
* [Disease name] may be diagnosed at any time if one or more of the following criteria are met:
** Criteria 1
** Criteria 2
** Criteria 3
 
IF there are clear, established diagnostic criteria:
*The diagnosis of [disease name] is made when at least [number] of the following [number] diagnostic criteria are met: [criterion 1], [criterion 2], [criterion 3], and [criterion 4].
*The diagnosis of [disease name] is based on the [criteria name] criteria, which include [criterion 1], [criterion 2], and [criterion 3].
*The diagnosis of [disease name] is based on the [definition name] definition, which includes [criterion 1], [criterion 2], and [criterion 3].
IF there are no established diagnostic criteria: 
*There are no established criteria for the diagnosis of [disease name].


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==
==References==
{{Reflist|2}}
{{Reflist|2}}
{{WH}}
{{WH}}
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{{WS}}

Latest revision as of 16:30, 21 July 2018

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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

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[1][2].
  • Labratory findings are more fundamental than anything else to confirm the diagnosis. The laboratory tests usually are performed when[3][4]:
Diagnostic results

The following results of Laboratory tests are confirmatory of Fanconi syndrome[5][6][7][1]:

Sequence of Diagnostic Studies

The laboratory tests usually are performed when:

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[8][2].

The following results of the laboratory tests together are confirmatory of Fanconi syndrome[7][6][5][1]; 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[8].

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

  1. ↑ 1.0 1.1 1.2 Karatzas A, Paridis D, Kozyrakis D, Tzortzis V, Samarinas M, Dailiana Z; et al. (2017). "Fanconi syndrome in the adulthood. The role of early diagnosis and treatment". J Musculoskelet Neuronal Interact. 17 (4): 303–306. PMC 5749037. PMID 29199190.
  2. ↑ 2.0 2.1 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
  3. ↑ ENGLE RL, WALLIS LA (1957). "The adult Fanconi syndrome. II. Review of eighteen cases". Am J Med. 22 (1): 13–23. PMID 13381735.
  4. ↑ 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
  5. ↑ 5.0 5.1 Fanconi G: Der fruehinfantile nephrotisch-glykosurische Zwergwuchs mit hypophosphataemischer Rachitis. Jahrbuch Kinderheilkunde 147 :299– 338,1936
  6. ↑ 6.0 6.1 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
  7. ↑ 7.0 7.1 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
  8. ↑ 8.0 8.1 Kleta R (2008). "Fanconi or not Fanconi? Lowe syndrome revisited". Clin J Am Soc Nephrol. 3 (5): 1244–5. doi:10.2215/CJN.02880608. PMC 4571153. PMID 18667737.

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