Alport Syndrome

Khalid Bashir, MD Reviewed 06/2018
 


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 (2/3 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 tha...

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

  • Rena...

ONGOING CARE

FOLLOW-UP 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 Abst...

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.

  • Hertz JM, Thomassen M, S...

CODES

ICD10

Q87.81 Alport syndrome 

ICD9

759.89 Other specified congenital anomalies 

SNOMED

399340005 hereditary nephritis (disorder) 

CLINICAL PEARLS

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

  • AS should be considered in patients with hypertension, hearing loss, ...

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