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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

1
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. {L-End} [V...

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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