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Fanconi syndrome differential diagnosis

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

Overview

Fanconi syndrome is characterized by freely losses of water, HCO3-, Na+ and K+, all classes of amino acids, 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 excretion 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:

The table below describe the characteristics of these DDx in more details:

Renal differential diagnosis of Fanconi syndrome[1][2][3][4][5][6][7][8][9][10][11][12][13][14]

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 Osteomalacia/Rickets
Proximal RTA – -/+ -/+ N – ↓/N – – N N ↓/N N ↓ 5.5↓ N High fractional HCO3– excretion
Distal RTA – -/+ -/+ N – ↓↓/N – – N N ↓/N N ↓ 5.5↑ ↑ Nephrplithiasis/

Osteomalacia/Rickets

RTA Type IV – -/+ -/+ N – N – – N ↓ ↓ ↑ ↑ N ↓ 5.5↓ ↓/N Hyporeninemic Hypoaldosteronism
Nephrotic Syndrome -/+ + – ↑/N + ↓ + – N ↓/N N ↓↓/N N N N Hyperlipidemia
Gitelman syndrome – + -/+ ↓ – N – – ↓ ↓/N ↓ ↑/N ↑ 5.5↑ ↓ Often asymptomatic
Bartter’s syndrome + -/+ -/+ ↓ – ↓ – – ↓ ↓/N ↓ ↑/N ↑ 5.5↑ ↑ Nephrplithiasis/Rickets

References

  1. ↑ 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.
  2. ↑ 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.
  3. ↑ 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.
  4. ↑ 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.
  5. ↑ ENGLE RL, WALLIS LA (1957). “The adult Fanconi syndrome. II. Review of eighteen cases”. Am J Med. 22 (1): 13–23. PMID 13381735.
  6. ↑ 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.
  7. ↑ 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.
  8. ↑ 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.
  9. ↑ Buckalew VM (1989). “Nephrolithiasis in renal tubular acidosis”. J Urol. 141 (3 Pt 2): 731–7. PMID 2645431.
  10. ↑ Rothstein M, Obialo C, Hruska KA (1990). “Renal tubular acidosis”. Endocrinol Metab Clin North Am. 19 (4): 869–87. PMID 2081516.
  11. ↑ Sheth KJ, Kher KK (1984). “Anion gap in nephrotic syndrome”. Int J Pediatr Nephrol. 5 (2): 89–92. PMID 6490322.
  12. ↑ Bagga A, Sinha A (2007). “Evaluation of renal tubular acidosis”. Indian J Pediatr. 74 (7): 679–86. PMID 17699978.
  13. ↑ Rodríguez-Soriano J (1998). “Bartter and related syndromes: the puzzle is almost solved”. Pediatr Nephrol. 12 (4): 315–27. PMID 9655365.
  14. ↑ Uribarri J, Oh MS, Pak CY (1994). “Renal stone risk factors in patients with type IV renal tubular acidosis”. Am J Kidney Dis. 23 (6): 784–7. PMID 8203358.

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