Fanconi syndrome differential diagnosis: Difference between revisions
Jump to navigation
Jump to search
No edit summary |
|||
| Line 17: | Line 17: | ||
** [[RTA]] Type IV | ** [[RTA]] Type IV | ||
===Preferred Table<ref name="pmid22990302">{{cite journal| author=Viganò C, Amoruso C, Barretta F, Minnici G, Albisetti W, Syrèn ML et al.| title=Renal phosphate handling in Gitelman syndrome--the results of a case-control study. | journal=Pediatr Nephrol | year= 2013 | volume= 28 | issue= 1 | pages= 65-70 | pmid=22990302 | doi=10.1007/s00467-012-2297-3 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=22990302 }}</ref><ref name="pmid24902942">{{cite journal| author=Bettinelli A, Viganò C, Provero MC, Barretta F, Albisetti A, Tedeschi S et al.| title=Phosphate homeostasis in Bartter syndrome: a case-control study. | journal=Pediatr Nephrol | year= 2014 | volume= 29 | issue= 11 | pages= 2133-8 | pmid=24902942 | doi=10.1007/s00467-014-2846-z | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24902942 }}</ref><ref name="pmid2621431">{{cite journal| author=Tsau YK, Chen CH, Lee PI| title=Growth in children with nephrotic syndrome. | journal=Taiwan Yi Xue Hui Za Zhi | year= 1989 | volume= 88 | issue= 9 | pages= 900-6 | pmid=2621431 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2621431 }}</ref><ref name="pmid22282380">{{cite journal| author=Fremont OT, Chan JC| title=Understanding Bartter syndrome and Gitelman syndrome. | journal=World J Pediatr | year= 2012 | volume= 8 | issue= 1 | pages= 25-30 | pmid=22282380 | doi=10.1007/s12519-012-0333-9 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=22282380 }}</ref><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>=== | ===Preferred Table<ref name="pmid22990302">{{cite journal| author=Viganò C, Amoruso C, Barretta F, Minnici G, Albisetti W, Syrèn ML et al.| title=Renal phosphate handling in Gitelman syndrome--the results of a case-control study. | journal=Pediatr Nephrol | year= 2013 | volume= 28 | issue= 1 | pages= 65-70 | pmid=22990302 | doi=10.1007/s00467-012-2297-3 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=22990302 }}</ref><ref name="pmid24902942">{{cite journal| author=Bettinelli A, Viganò C, Provero MC, Barretta F, Albisetti A, Tedeschi S et al.| title=Phosphate homeostasis in Bartter syndrome: a case-control study. | journal=Pediatr Nephrol | year= 2014 | volume= 29 | issue= 11 | pages= 2133-8 | pmid=24902942 | doi=10.1007/s00467-014-2846-z | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24902942 }}</ref><ref name="pmid2621431">{{cite journal| author=Tsau YK, Chen CH, Lee PI| title=Growth in children with nephrotic syndrome. | journal=Taiwan Yi Xue Hui Za Zhi | year= 1989 | volume= 88 | issue= 9 | pages= 900-6 | pmid=2621431 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2621431 }}</ref><ref name="pmid22282380">{{cite journal| author=Fremont OT, Chan JC| title=Understanding Bartter syndrome and Gitelman syndrome. | journal=World J Pediatr | year= 2012 | volume= 8 | issue= 1 | pages= 25-30 | pmid=22282380 | doi=10.1007/s12519-012-0333-9 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=22282380 }}</ref><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 name="pmid23235953">{{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>=== | ||
{| | {| | ||
|- style="background: #4479BA; color: #FFFFFF; text-align: center;" | |- style="background: #4479BA; color: #FFFFFF; text-align: center;" | ||
Revision as of 05:05, 19 June 2018
|
Fanconi syndrome Microchapters |
|
Diagnosis |
|---|
|
Treatment |
|
Case Studies |
|
Fanconi syndrome differential diagnosis On the Web |
|
American Roentgen Ray Society Images of Fanconi syndrome differential diagnosis |
|
Risk calculators and risk factors for Fanconi syndrome differential diagnosis |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Overview
Fnaconi syndrome is characterized by freely losses of water, HCO3-, Na+ and K+, all classes of aminoacids, uric acid, LMW nutrients, and glucose in line with evidence of proximal renal tubular acidosis(P-RTA). It has been mentioned that one or two of the above substances can have normal renal excertion and the disease still be called (however incomplete) Fanconi syndrome.
Differentiating "Fanconi syndrome" from other Diseases
- The differential diagnosis(DDx) of the syndrome is mainly done on the basis of clinical and laboratory findings. Hence the disease must be differentiated with all of the other conditions which partly present its characteristics and clinical findings (and so cannot be called Fanconi syndrome yet) or just have some limited features in common. The most important DDxs are:
- Glomerular defects
- Diuretic use
- Nephrotic syndrome
- Gitelman syndrome
- Bartter's syndrome
- Proximal RTA
- Distal RTA
- RTA Type IV
Preferred Table[1][2][3][4][5][6]
| Diseases | Clinical manifestations | Para-clinical findings | Additional findings | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Symptoms | Physical examination | |||||||||||||||
| Lab Findings | ||||||||||||||||
| Dehydration | Lethargy | Musculoskeletal pain | Blood Pressure | Edema | Growth | Proteinuria | Aminoaciduria | Serum Phosphate | Serum [Na+] | Serum [K+] | Anion Gap | Serum PH | Urine PH | Urine [Ca2+] | ||
| Fanconi Syndrome | + | + | + | ↓/N | -/+ | ↓ | + | + | ↓ | ↓/N | ↓/N | N | ↓ | 5.5↓ | ↓/N | |
| Proximal RTA | - | -/+ | -/+ | N | - | ↓/N | - | - | N | N | ↓/N | N | ↓ | 5.5↓ | N | |
| Distal RTA | - | -/+ | -/+ | N | - | ↓/N | - | - | N | N | ↓/N | N | ↓ | 5.5↑ | ↑ | |
| RTA Type IV | - | -/+ | -/+ | N | - | N | - | - | N | ↓ ↓ | ↑ ↑ | N | ↓ | 5.5↓ | ↓/N | |
| Nephrotic Syndrome | -/+ | + | - | ↑/N | + | ↓ | + | - | N | ↓/N | N | ↓/N | N | N | N | |
| Gitelman syndrome | -/+ | + | -/+ | ↓ | - | N | - | - | ↓ | ↓/N | ↓/N | ↑/N | ↑ | 5.5↑ | ↓ | |
| Bartter's syndrome | + | + | -/+ | ↓ | - | ↓/N | - | - | ↓ | ↓/N | ↓/N | ↑/N | ↑ | 5.5↑ | ↑ | Nephrplithiasis |
References
- ↑ Viganò C, Amoruso C, Barretta F, Minnici G, Albisetti W, Syrèn ML; et al. (2013). "Renal phosphate handling in Gitelman syndrome--the results of a case-control study". Pediatr Nephrol. 28 (1): 65–70. doi:10.1007/s00467-012-2297-3. PMID 22990302.
- ↑ Bettinelli A, Viganò C, Provero MC, Barretta F, Albisetti A, Tedeschi S; et al. (2014). "Phosphate homeostasis in Bartter syndrome: a case-control study". Pediatr Nephrol. 29 (11): 2133–8. doi:10.1007/s00467-014-2846-z. PMID 24902942.
- ↑ Tsau YK, Chen CH, Lee PI (1989). "Growth in children with nephrotic syndrome". Taiwan Yi Xue Hui Za Zhi. 88 (9): 900–6. PMID 2621431.
- ↑ Fremont OT, Chan JC (2012). "Understanding Bartter syndrome and Gitelman syndrome". World J Pediatr. 8 (1): 25–30. doi:10.1007/s12519-012-0333-9. PMID 22282380.
- ↑ ENGLE RL, WALLIS LA (1957). "The adult Fanconi syndrome. II. Review of eighteen cases". Am J Med. 22 (1): 13–23. PMID 13381735.
- ↑ 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.