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 common diseases are listed in the table below.[2][3][4][5][6]

Common Differential Diagnoses of Alport's Syndrome
Differential Diagnosis Distinguishing Features Comments
Polycystic Kidney Disease Generally, absence of auditory or ocular manifestations Ocular manifestations such as retinal dystrophy might be present
Medullary Cystic Disease Absence of auditory or ocular manifestations Ocular manifestations such as congenital cataracts may be present
Epstein Syndrome Renal, auditory, and hematological manifestations Type V AS variant
Fechtner Syndrome Renal, auditory, and hematological manifestations Type III AS variant
Leiomyomatosis Cataract, auditory manifestations, and glomerulonephritis with multiple benign lesions made of smooth muscle cells May be present with Alport’s syndrome due to involvement of adjacent gene, COL4A6.


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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