Alport Syndrome

Reviewed 06/2017
 


BASICS

DESCRIPTION

  • A group of genetic diseases with defects in one of several subunits of type IV collagen that cause progressive hematuric nephritis and sensorineural deafness

  • Genetically heterogeneous...

DIAGNOSIS

HISTORY

  • Gross hematuria (⅔; of preschool boys with X-linked type)

    • Less common in girls

    • May be triggered by upper airway infections

    • Infrequent in adults

  • Microhematuria (± symptoms)

    • More common ...

TREATMENT

GENERAL MEASURES

  • No effective medical cure

  • BP goals:

    • <70th percentile in children

    • <130/80 mm Hg in adults

  • Hearing monitoring and rehabilitation with devices

  • Periodic ophthalmologic exams

  • Re...

ONGOING CARE

FOLLOWUP RECOMMENDATIONS

  • No specific restrictions

  • Pregnancy: Outpatient pregnancy monitoring appears appropriate if renal function (proteinuria, serum albumin and creatinine) and BP remain ...

REFERENCES

Savige J, Gregory M, Gross O et al. Expert guidelines for the management of Alport syndrome and thin basement membrane nephropathy. J Am Soc Nephrol.  2013;24(3):364–375. [View Abstra...

ADDITIONAL READING

  • Haas M. Alport syndrome and thin glomerular basement membrane nephropathy: a practical approach to diagnosis. Arch Pathol Lab Med.  2009;133(2):224–232. [View Abstract on OvidI...

CODES

ICD10

Q87.81 Alport syndrome 

ICD9

759.89 Other specified congenital anomalies 

SNOMED

399340005 hereditary nephritis (disorder) 

PEARLS

  • Alport syndrome is caused by mutations that arrest the normal development of collagen in the GBM, the cochlea, and the lens capsule.

  • Alport syndrome should be considered in patients with hyperte...

Subscribe to Access Full Content

Sign Up for a 10-Day Free Trial

Sign up for a 10-day FREE Trial now and receive full access to all content.

×