Fanconi syndrome differential diagnosis

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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

Preferred Table

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	↓	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
Gitelman syndrome	+			↓	-	N	-	-	↓	↓/N	↓/N	↑/N	↑	5.5↑	↓
Bartter's syndrome	+			↓	-	↓/N	-	-	↓	↓/N	↓/N	↑/N	↑	5.5↑	↑