Fanconi syndrome diagnostic study of choice: Difference between revisions
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=== 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. | * 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: | * 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 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. | ** The adult patient presented with symptoms/signs of dehydration,lethargy,walking disabilities, and osteomalacia. | ||
===== Diagnostic results ===== | ===== Diagnostic results ===== | ||
The following result of Laboratory tests is confirmatory of Fanconi syndrome: | The following result of Laboratory tests is 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 | * Generalized aminoaciduria without elevation of plasma amino acids | ||
* Low anion gap metabolic acidosis resulting from renal bicarbonate loss | * Low anion gap metabolic acidosis resulting from renal bicarbonate loss | ||
| Line 19: | Line 19: | ||
* Hypophosphatemia | * Hypophosphatemia | ||
* Glucosuria without hyperglycemia | * Glucosuria without hyperglycemia | ||
* Low molecular weight proteinuria without | * Low molecular weight proteinuria without respective elevations of plasma proteins | ||
===== Sequence of Diagnostic Studies ===== | ===== Sequence of Diagnostic Studies ===== | ||
| Line 26: | Line 26: | ||
* The adult patient presented with symptoms/signs of dehydration,lethargy,walking disabilities, bone pains and osteomalacia. | * The adult patient presented with symptoms/signs of dehydration,lethargy,walking disabilities, bone pains and osteomalacia. | ||
=== Diagnostic Criteria === | === 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 | 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; however in cases of one or more absence of these findings, the disease might have been called Fanconi syndrome in some literature and | 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 | * Generalized aminoaciduria without elevation of plasma amino acids | ||
* Low anion gap metabolic acidosis resulting from renal bicarbonate loss | * Low anion gap metabolic acidosis resulting from renal bicarbonate loss | ||
| Line 36: | Line 36: | ||
* Low molecular weight proteinuria without any evidence for respective elevations of plasma proteins | * 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 | 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}} | ||
{{WS}} | {{WS}} | ||
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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[1][2].
- Labratory findings are more fundamental than anything else to confirm the diagnosis. The laboratory tests usually are performed when[3][4]:
- 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[5][6][7][1]:
- 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 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 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].
- 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 concentration limits of these ingredients is not practical and their deviation from the normal range is considered diagnostic.
References
- ↑ 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.
- ↑ 2.0 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
- ↑ ENGLE RL, WALLIS LA (1957). "The adult Fanconi syndrome. II. Review of eighteen cases". Am J Med. 22 (1): 13–23. PMID 13381735.
- ↑ 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
- ↑ 5.0 5.1 Fanconi G: Der fruehinfantile nephrotisch-glykosurische Zwergwuchs mit hypophosphataemischer Rachitis. Jahrbuch Kinderheilkunde 147 :299– 338,1936
- ↑ 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
- ↑ 7.0 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
- ↑ 8.0 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.