Alport syndrome differential diagnosis

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The differential diagnosis of Alport’s syndrome includes other conditions that involve persistent familial hematuria, renal failure, hearing loss, retinal fleck, and lamellated GBM.[1]Some of the other diseases are listed in the table below.[2][3][4][5][6]


According to expert opinion[1], the differential diagnosis of Alport’s syndrome is very wide and includes the following:

Familial Hematuria

  • TBMN
  • Familial IgA nephropathy
  • MYH9-related disorder, such as Fechtner and Epstein syndromes
  • Membranoproliferative GN type 2
  • Familail hemolytic uremic syndrome
  • C3 nephropathy
  • ADPKD
  • Sickle cell disease or trait
  • Familial hypercalciuria or familial urolithiasis

Renal Impairment and Hearing Loss

  • MYH-9 related disorders such as Fechtner syndrome
  • Nephronophthisis
  • Bartter syndrome
  • Distal renal tubular acidosis
  • MELAS syndrome
  • Fabry disease
  • Branchio-oto-renal syndrome
  • Townes-Brock syndrome
  • CHARGE syndrome
  • Kallmann syndrome
  • Alstrom disease
  • Muckle-Wells syndrome

Hearing Loss

  • Middle-ear infections
  • Age
  • Industrial noise exposure
  • Ototoxic drugs
  • Renal failure and dialysis

Retinal Flecks

  • Membranoproliferative GN type 2
  • IgA nephropathy
  • Systemic lupus erythematosus
  • Other forms of GN
  • Severe hypertension
  • C3 nephropathy

Lamellated Glomerular Basement Membrane

  • Focal damage
  • MYH9-related disorders, such as Fechtner and Epstein syndromes
  • Pierson syndrome
  • Nail-patella syndrome
  • Mutations in the tetraspanin (CD151) gene
  • Frasier syndrome
  • Galloway-Mowat syndrome

References

  1. 1.0 1.1 Savige J, Gregory M, Gross O, Kashtan C, Ding J, Flinter F (2013). "Expert guidelines for the management of Alport syndrome and thin basement membrane nephropathy". J Am Soc Nephrol. 24 (3): 364–75. doi:10.1681/ASN.2012020148. PMID 23349312.
  2. Hudson BG, Reeders ST, Tryggvason K (1993). "Type IV collagen: structure, gene organization, and role in human diseases. Molecular basis of Goodpasture and Alport syndromes and diffuse leiomyomatosis". J Biol Chem. 268 (35): 26033–6. PMID 8253711.
  3. Amari F, Segawa K, Ando F (1994). "Lens coloboma and Alport-like glomerulonephritis". Eur J Ophthalmol. 4 (3): 181–3. PMID 7819734.
  4. Lonsdale RN, Roberts PF, Vaughan R, Thiru S (1992). "Familial oesophageal leiomyomatosis and nephropathy". Histopathology. 20 (2): 127–33. PMID 1559666.
  5. García-Torres R, Orozco L (1993). "Alport-leiomyomatosis syndrome: an update". Am J Kidney Dis. 22 (5): 641–8. PMID 8238008.
  6. McCarthy PA, Maino DM (2000). "Alport syndrome: a review". Clin Eye Vis Care. 12 (3–4): 139–150. PMID 11137428.

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