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.jpg): Failed to open stream: No such file or directory in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 117 Nephrol+Dial+Transplant
2016 ; 31
(6
): 952-60
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Effect of genotype on the severity and volume progression of polycystic liver
disease in autosomal dominant polycystic kidney disease
#MMPMID26932689
Chebib FT
; Jung Y
; Heyer CM
; Irazabal MV
; Hogan MC
; Harris PC
; Torres VE
; El-Zoghby ZM
Nephrol Dial Transplant
2016[Jun]; 31
(6
): 952-60
PMID26932689
show ga
BACKGROUND: The autosomal dominant polycystic kidney disease (APDKD) genotype
influences renal phenotype severity but its effect on polycystic liver disease
(PLD) is unknown. Here we analyzed the influence of genotype on liver phenotype
severity. METHODS: Clinical data were retrieved from electronic records of
patients who were mutation screened with the available liver imaging (n = 434).
Liver volumes were measured by stereology (axial or coronal images) and adjusted
to height (HtLV). RESULTS: Among the patients included, 221 (50.9%) had
truncating PKD1 (PKD1-T), 141 (32.5%) nontruncating PKD1 (PKD1-NT) and 72 (16.6%)
PKD2 mutations. Compared with PKD1-NT and PKD2, patients with PKD1-T had greater
height-adjusted total kidney volumes (799 versus 610 and 549 mL/m; P < 0.001).
HtLV was not different (1042, 1095 and 1058 mL/m; P = 0.64) between the three
groups, but females had greater HtLVs compared with males (1114 versus 1015 mL/m;
P < 0.001). Annualized median liver growth rates were 1.68, 1.5 and 1.24% for
PKD1-T, PKD1-NT and PKD2 mutations, respectively (P = 0.49), and remained
unaffected by the ADPKD genotype when adjusted for age, gender and baseline HtLV.
Females <48 years of age had higher annualized growth rates compared with those
who were older (2.65 versus 0.09%; P < 0.001). After age 48 years, 58% of females
with severe PLD had regression of HtLV, while HtLV continued to increase in
males. CONCLUSIONS: In contrast to the renal phenotype, the ADPKD genotype was
not associated with the severity or growth rate of PLD in ADKPD patients. This
finding, along with gender influence, indicates that modifiers beyond the disease
gene significantly influence the liver phenotype.