Fanconi syndrome diagnostic study of choice: Difference between revisions

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Revision as of 03:57, 18 June 2018

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:

Overview

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.
Labratory findings are more fundamental than anything else to confirm the diagnosis. 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, and osteomalacia.

Diagnostic results

The following result of Laboratory tests is confirmatory of Fanconi syndrome:

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 any evidence for 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 pains 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 defined.

The following results of the laboratory tests together are confirmatory of Fanconi syndrome; however in cases of one or more absence of these findings, the disease might have been called Fanconi syndrome in some literature and it is interpreted then that they should not have.

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 any evidence for respective elevations of plasma proteins

because of various pathophysiology of disease in patients, the definition of exact limits theses ingredients concentrations is not practical. and their deviation from the normal range is considered diagnostic.

References

Template:WH Template:WS

@@ Line 7: / Line 7: @@
 === 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.
-* 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:
-** 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, 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 =====
-The following result of [investigation name] is confirmatory of [disease name]:
+The following result of Laboratory tests is confirmatory of Fanconi syndrome:
-* 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 any evidence for respective elevations of plasma proteins
 ===== 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 pains and osteomalacia.
 === 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 defined.
-*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; however in cases of one or more absence of these findings, the disease might have been called Fanconi syndrome in some literature and it is interpreted then that they should not have.
+* 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 any evidence for respective elevations of plasma proteins
+because of various pathophysiology of disease in patients, the definition of exact limits theses ingredients concentrations is not practical. and their deviation from the normal range is considered diagnostic.
 ==References==
 {{Reflist|2}}
 {{WH}}
 {{WS}}