Syndromes Flashcards

1
Q

Alport

A

COL4A
SNHL, Ant. Lenticonus, macular changes cataract
ACE-i

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2
Q

Congenital NS

A

NPHS1 nephrin
NPHS2 podocin
WT1 Denys Drash synd.

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3
Q

Denys Drash

A

WT1 gene

Congenital NS, Wilms Tx, Male pseudo hermaphroditism

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