Table 3b.

Autosomal Recessive Polycystic Kidney Disease – PKHD1: Genotype-Phenotype Correlations by Variant Location within the Fibrocystin Region

PKHD1 Variant Location 1Genotype-Phenotype CorrelationComment
Amino acids 709-1837
  • Less frequently assoc w/KF 2
  • In 35 persons w/1 null variant & 1 missense variant in this region, substantial hepatic complications were absent during observation period in childhood.
15-year survival rate w/o:
  • KRT = 95%
  • Signs of portal hypertension = 51%
  • Substantial hepatic complications = 94%
Amino acids 1000-2000
  • Milder presentation
  • Observed in children surviving neonatal period 3
Amino acids 1838-2624Better liver outcomes 215-year survival rate w/o:
  • KRT = 30%-59%
  • Signs of portal hypertension = 53%
  • Substantial hepatic complications = 86%
Amino acids 2625-4074
  • Poorer liver outcomes 2
  • Predominant liver phenotype in persons w/variants around amino acids 2831-2840 & 3051-3209 4
15-year survival rate w/o:
  • KRT = 72%
  • Signs of portal hypertension = 13%
  • Substantial hepatic complications = 48%

KF = kidney failure; KRT = kidney replacement therapy

1.

Variant location referrs specifically to the location of the corresponding missense variant(s) in individuals with either null/missense or biallelic missense variants. For biallelic missense variants to be included in this table, both had to be within the same region to be assigned to a specific group.

2.
3.
4.

From: Autosomal Recessive Polycystic Kidney Disease – PKHD1

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