Table 3.

Clinical and genetic characteristics of the participants.

label for genetic study	Family	gender	Age (year)	Age at onset (year)	Initial presentation	Ophthalmic signs	Modality	Cysts on ultrasound	histopat hology	NPHP 1 homozygous deletion
A	A5225	female	12	4	AOC/ P&P	RP	HD	+	ND	No
B	A5226	female	15	12	AOC	RP/RD	HD	−	ND	No
C	A5227	Male	20	10	P&P/D P/GD	RD	KTx	+	ND	No
D1	A5228-111	female	15	8	P&P	RP	mRRT	+	ND	No
D2	A5228-112	female	22	7	AOC	RP	KTx	+	ND	No
E	A5229	female	14	11	P&P/ GR	RD	HD	−	ND	No
F	A5230	male	16	12	AOC	RP/RD	HD	+	ND	No
G	A5231	female	20	10	AOC	RD	KTx	−	ND	No
006	A5232	female	16	11	P&P/G D	RP	KTx	+	Yes	No
007	A5233	female	17	12	P&P/D P/GD	RFD	mRRT	+	Yes	No
008	A5234	male	12	7	P&P	RFD	mRRT	+	Yes	Yes
009	A5235	male	15	14	AOC	RFD	mRRT	+	yes	No
011	A5236	male	14	10	P&P/ DP	RP/RD	mRRT	+	yes	No
012	A5237	female	17	14	AOC	RFD	KTx	+	ND	Yes
013	A5238	male	12	11	AOC	RP	HD	−	ND	No
014	A5239	female	15	6	P&P/G D	RFD	PD	+	Yes	No

A to G are families from Qeshm and 006 to 014 are families from Isfahan province. mRRT: medical renal replacement therapy, RTx: renal transplantation, HD: hemodialysis, PD: peritoneal dialysis, ND: not done. Histopathological triad: tubular basement membrane thickening and disruption, interstitial infiltration and fibrosis, and tubular atrophy and dilatation with or without cyst formation. P&P: polyuria and polydipsia, DP: delayed puberty, GR: growth retardation, RP: retinitis pigmentosa, RD: retinal dystrophy, RFD: Refractory disturbances, AOC: acute on chronic renal failure.