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- Published: October 31, 2019
- By: Vanessa Moreno, MD
ANSWER: D ADPKD is genetically heterogeneous with two major genes, PKD1 and PKD2 (~90% families), and a rare third locus, GANAB lately discovered. Less than 10% of ADPKD families are negative for these genes. More recently, DNAJB11 has been identified in those patients from ADPKD-negative pedigrees. For the blog: ADPKD is the most common inherited kidney disorder. Two genes PKD1 and PKD2, coding for membrane proteins involved in the primary cilium, account for more than 90% of typical cases of ADPKD. A third gene, GANAB coding for the α-subunit of the endoplasmic reticulum-resident enzyme glucosidase II, has been associated with...