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]
| 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
- ↑ 1.0 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.
- ↑ 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.
- ↑ Amari F, Segawa K, Ando F (1994). "Lens coloboma and Alport-like glomerulonephritis". Eur J Ophthalmol. 4 (3): 181–3. PMID 7819734.
- ↑ Lonsdale RN, Roberts PF, Vaughan R, Thiru S (1992). "Familial oesophageal leiomyomatosis and nephropathy". Histopathology. 20 (2): 127–33. PMID 1559666.
- ↑ García-Torres R, Orozco L (1993). "Alport-leiomyomatosis syndrome: an update". Am J Kidney Dis. 22 (5): 641–8. PMID 8238008.
- ↑ McCarthy PA, Maino DM (2000). "Alport syndrome: a review". Clin Eye Vis Care. 12 (3–4): 139–150. PMID 11137428.