Table 2.

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

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

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)

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