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Table 2 Summary of genotype-phenotype outcomes of ARPKD patients with PKHD1 mutations

From: Clinical and genetic characteristics of autosomal recessive polycystic kidney disease in Oman

Genotype

Pedigree No.

Patient ID

Age at clinical diagnosis

Peri−/ neonatal death

Potter’s phenotype

Pulmonary hypoplasia

Hypertension

CKD

ESRD with RTX

ESRD with CAPD / HD

Hepatic fibrosis

Splenomegaly

Esophageal varices

UTI

Congestive heart failure

Iron deficiency anemia

Molecular diagnostic method

Thr36Met; Thr36Met

1

II1

Prenatal

✔ 4 m

✔

 

✔ 3 m

✔

      

✔

 

NGS*

2

IV4

2–12 m

   

✔ 1 y

✔

  

✔ 1 y

✔

    

NGS*

3

II1

1–8 y

   

✔ 8 y

✔ 8 y

 

✔

✔ 10 y

✔ 8 y

 

✔ 8 y

  

NGS*

4

II4

    

✔

✔

 

✔

✔

✔

    

NGS*

5

II1

2–12 m

   

✔ 2 m

✔ 2 m

 

✔

✔ 2 m

✔ 2 m

✔

   

NGS*

6

II2

Prenatal

✔ 2 m

✔

✔

✔ 1 m

✔ 1 m

  

✔ 1 m

     

NGS*

7

II11

1–8 y

   

✔ 4 y

✔ 4 y

✔ 13 y

 

✔ 12 y

     

NGS*

 

III1

1–8 y

    

✔

✔ 3 y

 

✔ 3 y

     

Sanger

8

II1

1–8 y

   

✔

   

✔

     

NGS*

9

IV2

Prenatal

✔ < 1 d

✔

✔

 

✔

    

✔

   

NGS*

10

II1

Birth-1st m

   

✔ 1 y

   

✔ 6 y

✔ 6 y

 

✔ 5 y

  

Sanger

11

II1

2–12 m

   

✔ 2 m

✔ 3 y

 

✔

✔ 10 m

✔ 2 m

    

Sanger

 

II2

Birth-1st m

  

✔

✔ Birth

✔ 3 y

 

✔

✔ 1 y

✔ 1 y

 

✔ 3 y

  

Sanger

12

II1

Birth-1st m

   

✔ 2 y

✔ 15 d

  

✔ 5 m

✔ 9 m

    

Sanger

13

II6

Birth-1st m

✔ < 1 d

✔

 

✔

✔

      

✔

 

Sanger

14

II1

Prenatal

✔ 7 d

✔

✔

✔ Birth

✔ 4 d

        

Sanger

15

II1

2–12 m

    

✔ 6 m

 

✔

✔ 24 y

✔ 24 y

    

Sanger

16

II1

Prenatal

✔ < 1 d

 

✔

          

Sanger

Thr36Met; Thr136Ala

17

II4

2–12 m

   

✔ 5 m

   

✔ 5 m

     

NGS*

18

II4

2–12 m

   

✔ 14 y

✔ 14 y

 

✔

✔ 7 m

✔ 7 m

  

✔

 

NGS*

 

II5

Birth-1st m

   

✔ 11 y

   

✔

✔

  

✔

 

Sanger

19

II4

Prenatal

   

✔ 5 m

✔ 2 d

  

✔ 1 y

  

✔ 1 y

  

NGS*

20

III3

9–13 y

   

✔

✔ 13 y

 

✔

      

NGS*

21

II1

Prenatal

  

✔

✔ Birth

✔ 7 y

  

✔ 18 m

✔ 6 y

 

✔

  

Sanger

Thr36Met; Arg1624Trp

22

II2

1–8 y

   

✔ 12 y

   

✔ 3 y

✔

✔

   

NGS*

23

III4

9–13 y

    

✔ 12 y

✔ 12 y

      

✔

NGS*

 

III5

2–12 m

   

✔ 2 y

   

✔

✔ 5 m

    

Sanger

 

IV2

2–12 m

    

✔ 10 y

✔ 10 y; 19 y

 

✔

✔

 

✔ 10 y

 

✔

Sanger

24

II1

2–12 m

  

✔

    

✔ 2 y

     

NGS*

Thr136Ala; Thr136Ala

25

IV1

Birth-1st m

   

✔ 3 m

   

✔ 1 y

     

NGS*

 

IV3

Prenatal

   

✔ 2 m

   

✔ 1 y

     

Sanger

Arg1624Trp; Arg1624Trp

26

II2

Birth-1st m

   

✔ 3 y

   

✔ 4 y

     

Sanger

27

II1

2–12 m

   

✔ 5 m

✔ 2 y

  

✔ 5 m

✔ 5 m

    

Sanger

 

II2

2–12 m

   

✔ 9 m

         

Sanger

28

II1

9–13 y

       

✔

✔

    

Sanger

 

II2

2–12 m

   

✔ 19 m

✔ 3 y

  

✔ 3 y

     

Sanger

29

II1

1–8 y

       

✔

     

Sanger

Arg1624Trp; His3124Tyr

30

II4

1–8 y

   

✔

✔ 2 y

  

✔

✔ 25 y

✔

  

✔

NGS*

Unsolved

31

III3

2–12 m

             

Sanger

32

II1

2–12 m

       

✔

✔

    

Sanger

  1. Patient ID refers to the identification of patients within pedigree diagram, shown in Supplementary Figure S1. Patients either had a prior molecular genetic diagnosis (denoted NGS) or were diagnosed by targeted exon PCR and Sanger sequencing (denoted Sanger)
  2. CAPD continuous ambulatory peritoneal dialysis, CKD Chronic kidney disease, d Day, ESKD End stage kidney disease, F Females, HD Hemodialysis, M Males, m Month, NGS Next generation sequencing, RTX Renal transplantation, Sanger Sanger sequencing, UTI Urinary tract infections, y years
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BMC Nephrology

ISSN: 1471-2369

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