Alport syndrome history and symptoms

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Overview

Signs and Symptoms

The most common manifestation of Alport’s syndrome in children is persistent glomerular hematuria that shows evidence of dysmorphic RBCs on analysis of urinary specimens.[1] Nonetheless, hematuria may be present in up to 1% of children, usually due to thin basement membrane nephropathy (TBMN), and rarely due to Alport’s syndrome.[2][3][4][5] Nonetheless, TBMN usually signifies a carrier state of autosomal recessive pattern generally due to heterogeneous mutations of COL4A3 and COL4A4.[2]

Clinical Manifestations of Alport's Syndrome
Renal Auditory Ocular
  • Early Tinnitus
  • Vertigo
  • High-Frequency Progressive Bilateral Hearing Loss[6][7]
  • Refractory Error[6][7]
  • Posterior Polymorphous Dystrophy
  • Arcus
  • Glaucoma
  • Vogt’s White Limbal Girdle
  • Band Keratopathy
  • Lenticonus
  • Spherophakia[7]
  • Cataracts
  • Lens Coloboma[11]
  • Anterior Lenticonus
  • Flecked Retinopathy of the Macula or Periphery[12]

Although clinical signs and symptoms may be obvious, identification of these pathological findings children at very young age may be difficult. It is always important to note that children with chronic diseases may always present with loss of milestones or with unusual psychosocial presentations.[13]

References

  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. 2.0 2.1 Savige J, Rana K, Tonna S, Buzza M, Dagher H, Wang YY (2003). "Thin basement membrane nephropathy". Kidney Int. 64 (4): 1169–78. doi:10.1046/j.1523-1755.2003.00234.x. PMID 12969134.
  3. Hudson BG, Tryggvason K, Sundaramoorthy M, Neilson EG (2003). "Alport's syndrome, Goodpasture's syndrome, and type IV collagen". N Engl J Med. 348 (25): 2543–56. doi:10.1056/NEJMra022296. PMID 12815141.
  4. Hasstedt SJ, Atkin CL (1983). "X-linked inheritance of Alport syndrome: family P revisited". Am J Hum Genet. 35 (6): 1241–51. PMC 1685969. PMID 6650503.
  5. Persson U, Hertz JM, Wieslander J, Segelmark M (2005). "Alport syndrome in southern Sweden". Clin Nephrol. 64 (2): 85–90. PMID 16114783.
  6. 6.0 6.1 6.2 Chugh KS, Sakhuja V, Agarwal A, Jha V, Joshi K, Datta BN; et al. (1993). "Hereditary nephritis (Alport's syndrome)--clinical profile and inheritance in 28 kindreds". Nephrol Dial Transplant. 8 (8): 690–5. PMID 8414153.
  7. 7.0 7.1 7.2 7.3 McCarthy PA, Maino DM (2000). "Alport syndrome: a review". Clin Eye Vis Care. 12 (3–4): 139–150. PMID 11137428.
  8. 8.0 8.1 Andreoli SP, Deaton M (1992). "Alport's syndrome". Ear Nose Throat J. 71 (10): 508–11. PMID 1425373.
  9. Kashtan CE, Michael AF (1993). "Alport syndrome: from bedside to genome to bedside". Am J Kidney Dis. 22 (5): 627–40. PMID 8238007.
  10. Flinter F (1993). "Molecular genetics of Alport's syndrome". Q J Med. 86 (5): 289–92. PMID 8327646.
  11. Amari F, Segawa K, Ando F (1994). "Lens coloboma and Alport-like glomerulonephritis". Eur J Ophthalmol. 4 (3): 181–3. PMID 7819734.
  12. Govan JA (1983). "Ocular manifestations of Alport's syndrome: a hereditary disorder of basement membranes?". Br J Ophthalmol. 67 (8): 493–503. PMC 1040106. PMID 6871140.
  13. Boman K, Bodegård G (1997). "Psychological long-term coping with experience of disease and treatment in childhood cancer survivors". Acta Paediatr. 86 (9): 1026–7. PMID 9343296.

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