eMedicine Specialties > Pediatrics: General Medicine > Nephrology

Alport Syndrome: Follow-up

Author: Prasad Devarajan, MD, Louise M Williams Endowed Chair in Pediatrics, Professor of Pediatrics and Developmental Biology, Director of Nephrology and Hypertension, Director of Clinical Nephrology Laboratories, Chief Executive Officer of Dialysis Unit, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine
Contributor Information and Disclosures

Updated: Oct 1, 2008

Follow-up

Further Inpatient Care

  • Admit patients with Alport syndrome who have acute complications of renal failure and those needing renal-replacement therapy.
  • Admit patients who are undergoing renal transplantation.

Further Outpatient Care

  • Monitor medication doses and adverse effects.
  • Monitor renal function and the degree of proteinuria on a yearly basis.
  • Perform audiometry and ophthalmologic evaluations once every 2 years.

Inpatient & Outpatient Medications

  • Cyclosporine may decrease proteinuria and slow the rate of progression to end-stage renal disease (ESRD).
  • ACE inhibitors may also decrease proteinuria and slow the rate of progression to ESRD.

Transfer

  • Renal biopsy should be performed at a center with experience in pediatric biopsy and with facilities for ultrastructural analysis.
  • Transfer of the patient to a dialysis unit is indicated to manage peritoneal dialysis or hemodialysis.
  • Transplantation should be performed at a center with experience in pediatric kidney transplantation.

Complications

  • ESRD: Renal failure develops in male patients with X-linked Alport syndrome and in patients with autosomal recessive disease.
  • Hearing loss
  • Visual loss

Prognosis

  • The renal prognosis for male patients with X-linked Alport syndrome and for all patients with autosomal recessive disease is poor, with most progressing to ESRD.
    • Patients with a family history of juvenile-type Alport syndrome or with early onset deafness and ocular changes typically progress to ESRD by age 20-30 years.
    • Male patients with the typical X-linked disease have a renal half-life of about 25 years, and about 90% develop ESRD before age 40 years.
    • The degree of proteinuria is predictive of the rate of progression.
  • The long-term prognosis for female patients with X-linked Alport syndrome is generally more benign than that of male patients, with many surviving to old age with clinically mild renal disease.
    • Observations have shown that as many as 12% of female patients also develop ESRD by age 40 years; this rate increases to 30% by age 60 years and 40% by age 80 years.
    • Among female patients, risk factors for the progression to ESRD include the degree of proteinuria and hearing loss.

Patient Education

  • Screen family members for subclinical microscopic hematuria.
  • In asymptomatic patients, stress the importance of yearly physical examinations and laboratory evaluations. Advise patients to receive audiometry and visual testing every 2 years.
  • Advise parents affected with Alport syndrome and potential carriers of the disorder to obtain genetic counseling.
  • For excellent patient education resources, visit eMedicine's Kidneys and Urinary System Center. Also, see eMedicine's patient education article Blood in the Urine.

Miscellaneous

Medicolegal Pitfalls

  • Failure to consider Alport syndrome in an asymptomatic patient who has persistent microscopic hematuria
  • Failure to recognize that renal biopsy findings in individuals with early Alport syndrome may be indistinguishable from findings of thin glomerular basement membrane disease
  • Failure to recognize that genetic analysis reveals specific mutations in only 50-80% of individuals with Alport syndrome
  • Failure to counsel patients about the genetic implications of Alport syndrome on their future progeny and failure to advise the parents and relatives of an individual with the disorder

Special Concerns

  • In women with the more severe form of Alport syndrome, pregnancy may accelerate the progression to end-stage renal disease (ESRD).
 


More on Alport Syndrome

Overview: Alport Syndrome
Differential Diagnoses & Workup: Alport Syndrome
Treatment & Medication: Alport Syndrome
Follow-up: Alport Syndrome
Multimedia: Alport Syndrome
References
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Further Reading

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Keywords

Alport syndrome, Alport's syndrome, hereditary nephritis, familial nephritis, hereditary nephritis with neurosensory deafness, Alport syndrome and mental retardation, ATS-MR, end-stage renal disease, ESRD, hematuria, glomerulosclerosis, proteinuria, hypertension, hearing loss, upper respiratory infection, renal insufficiency, nephrotic syndrome, chronic anemia, osteodystrophy, leiomyomatosis, bronchitis, megathrombocytopenia, Epstein syndrome, Fechtner syndrome, May-Hegglin syndrome, Sebastian syndrome, hypoalbuminemia, hypercholesterolemia, stone disease, cystic dysplasia

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Contributor Information and Disclosures

Author

Prasad Devarajan, MD, Louise M Williams Endowed Chair in Pediatrics, Professor of Pediatrics and Developmental Biology, Director of Nephrology and Hypertension, Director of Clinical Nephrology Laboratories, Chief Executive Officer of Dialysis Unit, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine
Prasad Devarajan, MD is a member of the following medical societies: American Heart Association, American Society of Nephrology, American Society of Pediatric Nephrology, National Kidney Foundation, and Society for Pediatric Research
Disclosure: Nothing to disclose.

Medical Editor

Uri S Alon, MD, Director of Research and Education, Department of Pediatrics, Division of Pediatric Nephrology, Children's Mercy Hospital of Kansas City; Professor, University of Missouri at Kansas City
Uri S Alon, MD is a member of the following medical societies: American Federation for Medical Research
Disclosure: Nothing to disclose.

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine
Disclosure: Pfizer Inc Stock Investment from broker recommendation; Avanir Pharma Stock Investment from broker recommendation

Managing Editor

Luther Travis, MD, William W Glauser Professor of Pediatrics and Pediatric Nephrology, Department of Pediatrics, Divisions of Nephrology and Diabetes, University of Texas Medical Branch and Children's Hospital
Luther Travis, MD is a member of the following medical societies: Alpha Omega Alpha, American Federation for Medical Research, International Society of Nephrology, and Texas Pediatric Society
Disclosure: Nothing to disclose.

CME Editor

Howard Trachtman, MD, Program Director, Pediatrics Research, Schneider Children's Hospital, Department of Pediatrics, Division of Nephrology, Professor, Albert Einstein College of Medicine
Howard Trachtman, MD is a member of the following medical societies: American Society of Hypertension, American Society of Nephrology, American Society of Pediatric Nephrology, and Society for Pediatric Research
Disclosure: Nothing to disclose.

Chief Editor

Craig B Langman, MD, The Isaac A Abt, MD, Professor of Kidney Diseases, Feinberg School of Medicine, Northwestern University; Division Head of Kidney Diseases, Children's Memorial Hospital, Chicago
Craig B Langman, MD is a member of the following medical societies: American Academy of Pediatrics, American Society of Nephrology, and International Society of Nephrology
Disclosure: Amgen Grant/research funds None; Abbott Honoraria Speaking and teaching; Altus Pharmaceuticals Grant/research funds None; Genzyme Grant/research funds None; Merck Grant/research funds None; NIH Grant/research funds None

 
 
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