Alport syndrome in a 32-year-old: a case report.

Ndu Victor Onyebuchi1*, Ujah Terhide1, Oko-Jaja Richard2
1Department of Internal Medicine, Federal Medical Centre, Yenagoa, Bayelsa State, Nigeria.
2Department of Internal Medicine, University of Port Harcourt Teaching Hospital, Port Harcourt, Rivers State, Nigeria.
*Correspondence: Dr. Ndu Victor Onyebuchi; +234 806 302 3974; nduvictor5@gmail.com

Download full article in pdf format

Abstract

Background: Alport syndrome refers to a group of inherited, heterogeneous disorders involving the basement membrane of the kidney and frequently affecting the cochlea and eyes as well. These disorders are the result of mutations in type IV collagen genes. It is a rare disease accounting for approximately 3% of children and 0.2% of adult with end stage renal disease.
Case presentation: He presented with one-year history of inability to hear well with both ears and blurring of vision, and six-month history of recurrent episodes of haematuria. Following the report of renal biopsy, a diagnosis of chronic kidney disease secondary to Alport syndrome was made. He was counselled on the nature of his illness and was commenced on tablet loop diuretics (frusemide 40 mg daily) to improve diuresis and relieve oedema. For blood pressure control and proteinuria, he was placed on tablet amlodipine 10 mg and valsartan 320 mg. He was also placed on haematinics. Dyslipidaemia was treated using atorvastatin 10 mg daily. He was reviewed by the ENT surgeon and ophthalmologist, and presently being followed up in the renal unit.
Conclusion: Renal prognosis in Alport syndrome depends on the kind of mutation causing the condition. Early diagnosis and prompt and early management will help improve prognosis and the patient’s quality of life.

Keywords: Alport syndrome, Heterogeneous disorders, Mutations, End stage renal disease.

Cite this article: Ndu VO, Ujah T, Oko-Jaja R. Alport syndrome in a 32-year-old: a case report. Yen Med J. 2020;2(1):173–178.

REFERENCES

  1. United States Renal Data System. Annual Data Report 2008. USRDS-ADR. Available from: http://www.usrds.org/adr.htm. Accessed June 19, 2013.
  2. Kashtan CE. Familial haematuria. Pediatr Nephrol. 2009;24:1951-1958.
  3. Gregory M, Gross O, Kashtan C. Expert guidelines for the management of Alport syndrome and thin basement membrane nephropathy. J Am Soc Nephrol. 2013;24:364- 375.
  4. Gross O. Understanding renal disorders as systemic diseases: the fascinating world of basement membranes beyond the glomerulus. Nephrol Dial Transplant. 2008;23:1823-1825.
  5. Ahmed F, Kamae KK, Jones DJ. Temporal macular thinning associated with x-linked Alport syndrome. JAMA Ophthalmol. 2013;131:777-782.
  6. Charbit M, Gubler MC, Dechaux M. Cyclosporin therapy in patients with Alport syndrome. Pediatr Nephrol. 2007;22(1):57-63.
  7. Jais JP, Knebelmann B, Giatras I. X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to 195 families: a ‘European Community Alport Syndrome Concerted Action’ study. J Am Soc Nephrol. 2003;14:2603-2610
Scroll to Top
× Chat