Fanconi syndrome differential diagnosis: Difference between revisions
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** [[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><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><ref name="pmid25733763">{{cite journal| author=Andolino TP, Reid-Adam J| title=Nephrotic syndrome. | journal=Pediatr Rev | year= 2015 | volume= 36 | issue= 3 | pages= 117-25; quiz 126, 129 | pmid=25733763 | doi=10.1542/pir.36-3-117 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25733763 }}</ref><ref name="pmid35749">{{cite journal| author=Madias NE, Ayus JC, Adrogué HJ| title=Increased anion gap in metabolic alkalosis: the role of plasma-protein equivalency. | journal=N Engl J Med | year= 1979 | volume= 300 | issue= 25 | pages= 1421-3 | pmid=35749 | doi=10.1056/NEJM197906213002507 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=35749 }}</ref><ref name="pmid2645431">{{cite journal| author=Buckalew VM| title=Nephrolithiasis in renal tubular acidosis. | journal=J Urol | year= 1989 | volume= 141 | issue= 3 Pt 2 | pages= 731-7 | pmid=2645431 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2645431 }}</ref><ref name="pmid2081516">{{cite journal| author=Rothstein M, Obialo C, Hruska KA| title=Renal tubular acidosis. | journal=Endocrinol Metab Clin North Am | year= 1990 | volume= 19 | issue= 4 | pages= 869-87 | pmid=2081516 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2081516 }}</ref><ref name="pmid6490322">{{cite journal| author=Sheth KJ, Kher KK| title=Anion gap in nephrotic syndrome. | journal=Int J Pediatr Nephrol | year= 1984 | volume= 5 | issue= 2 | pages= 89-92 | pmid=6490322 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=6490322 }}</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><ref name="pmid25733763">{{cite journal| author=Andolino TP, Reid-Adam J| title=Nephrotic syndrome. | journal=Pediatr Rev | year= 2015 | volume= 36 | issue= 3 | pages= 117-25; quiz 126, 129 | pmid=25733763 | doi=10.1542/pir.36-3-117 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25733763 }}</ref><ref name="pmid35749">{{cite journal| author=Madias NE, Ayus JC, Adrogué HJ| title=Increased anion gap in metabolic alkalosis: the role of plasma-protein equivalency. | journal=N Engl J Med | year= 1979 | volume= 300 | issue= 25 | pages= 1421-3 | pmid=35749 | doi=10.1056/NEJM197906213002507 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=35749 }}</ref><ref name="pmid2645431">{{cite journal| author=Buckalew VM| title=Nephrolithiasis in renal tubular acidosis. | journal=J Urol | year= 1989 | volume= 141 | issue= 3 Pt 2 | pages= 731-7 | pmid=2645431 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2645431 }}</ref><ref name="pmid2081516">{{cite journal| author=Rothstein M, Obialo C, Hruska KA| title=Renal tubular acidosis. | journal=Endocrinol Metab Clin North Am | year= 1990 | volume= 19 | issue= 4 | pages= 869-87 | pmid=2081516 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2081516 }}</ref><ref name="pmid6490322">{{cite journal| author=Sheth KJ, Kher KK| title=Anion gap in nephrotic syndrome. | journal=Int J Pediatr Nephrol | year= 1984 | volume= 5 | issue= 2 | pages= 89-92 | pmid=6490322 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=6490322 }}</ref><ref name="pmid17699978">{{cite journal| author=Bagga A, Sinha A| title=Evaluation of renal tubular acidosis. | journal=Indian J Pediatr | year= 2007 | volume= 74 | issue= 7 | pages= 679-86 | pmid=17699978 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17699978 }}</ref>=== | ||
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Revision as of 05:47, 19 June 2018
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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][7][8][9][10][11][12]
| 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↑ | ↑ | Nephrplithiasis |
| 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.
- ↑ Andolino TP, Reid-Adam J (2015). "Nephrotic syndrome". Pediatr Rev. 36 (3): 117–25, quiz 126, 129. doi:10.1542/pir.36-3-117. PMID 25733763.
- ↑ Madias NE, Ayus JC, Adrogué HJ (1979). "Increased anion gap in metabolic alkalosis: the role of plasma-protein equivalency". N Engl J Med. 300 (25): 1421–3. doi:10.1056/NEJM197906213002507. PMID 35749.
- ↑ Buckalew VM (1989). "Nephrolithiasis in renal tubular acidosis". J Urol. 141 (3 Pt 2): 731–7. PMID 2645431.
- ↑ Rothstein M, Obialo C, Hruska KA (1990). "Renal tubular acidosis". Endocrinol Metab Clin North Am. 19 (4): 869–87. PMID 2081516.
- ↑ Sheth KJ, Kher KK (1984). "Anion gap in nephrotic syndrome". Int J Pediatr Nephrol. 5 (2): 89–92. PMID 6490322.
- ↑ Bagga A, Sinha A (2007). "Evaluation of renal tubular acidosis". Indian J Pediatr. 74 (7): 679–86. PMID 17699978.