Women and Alport syndrome

The percentage of Alport syndrome inherited in an X-linked manner is:

a. 100%
b. 80%
c. 50%
d. 20%

Heterozygous XLAS females can present with:

a. Normal urinalysis
b. Microscopic hematuria
c. Proteinuria
d. Sensorineural hearing loss
e. All of the above

The following has been shown to influence disease outcome in XLAS heterozygous females

a. X inactivation
b. Ethnicity
c. ACE inhibition
d. Pregnancy
e. Genotype

Which of the following are risk factors for renal disease progression in XLAS heterozygous females?

a. Microscopic hematuria
b. Proteinuria
c. Use of hormone replacement therapy
d. Hearing loss
e. B and D
f. B and C

X inactivation patterns in this tissue can predict X inactivation patterns in the kidney

a. Blood lymphocytes
b. Skin
c. Urinary epithelium
d. None of the above

Heterozygous XLAS females should be considered as kidney donors if they meet all of the following criteria except:

a. Presence of microscopic hematuria
b. Presence of proteinuria
c. Absence of sensorineural hearing loss
d. Absence of hypertension

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