Table 1.

Clinical features of individuals with persistent cloaca

Patient 2 had a mother with diabetes mellitus and Patient 6 is the patient with a UPIIIA mutation described by Jenkins et al. (20).

Key: AG, ambiguous genitalia; ASD, atrial septal defect; CRF, chronic renal failure (i.e. either a plasma creatinine concentration above the normal range for age and/or a ⁵¹chromium EDTA GFR below 80 ml/min/1.73m²; age at last measurement in parentheses); DUPK, duplex kidney and DYSK, dysplastic kidney (i.e. as assessed by radiological findings); ESRF, end-stage renal failure (i.e. long-term dialysis or functioning renal transplant); L, left; NA, not available/not assessed; NRF, normal renal function (i.e. not CRF or ESRF); R, right; RE, renal ectopia; SVD, sacral vertebral defect; OVD, other (i.e. non-sacral) vertebral defect; SI, situs inversus; SNK, structurally normal kidneys (i.e. assessed by radiology); SOK, solitary kidney; TOF, tracheoesophageal fistula; UD, urethral duplication; UM, uterus malformation (i.e. hydrocolpos and/or bicornuate/unicornuate uterus); VSD, ventricular septal defect.

Patient	Kidney malformations	Kidney function	Associated local/other organ malaformations
1	DYSK (L and R) VUR (L and R)	CRF (11 years)	SVD, UM
2	SNK	NRF (3 years)	ASD, SVD, UM, VSD
3	Hydonephrosis (L and R)	CRF (3 years)	SVD, UM
4 5	RE, VUR DUPK, DYSK, VUR (L and R)	CRF (6 years) CRF (8 years)	Dextrocardia, SVD, UM AG, SVD, UM
6	SOK, VUR (L)	ESRF (16 years)	AG, OVD, UD, UM, VSD
7	SNK	NRF (3 years)	Caudal regression, SVD, UM
8	DYSK, VUR (L)	NRF (4 years)	OVD, SVD
9	RE	CRF (2 years)	SVD
10	DYSK, VUR (L)	NRF (6 years)	SVD, TOF
11	DYSK (R), VUR (L and R)	CRF (6 years)	ASD, SVD
12	RE	ESRF (9 years)	Bladder atresia, OVD VACTERL
13	VUR (L)	CRF (6 years)	SVD, UM
14	SOK (R)	NRF (1 year)	UM
15	DYSK (L and R)	CRF (3 years)	UM, VSD
16	VUR (L and R)	NA	SVD, UM
17	VUR (L and R)	CRF (5 years)	SVD, UM
18	DYSK (L and R)	ESRF (14 years)	AG, SVD, TOF, UM, VACTERL
19	DUPK (L and R)	NRF (13 years)	UM
20	SNK	NRF (4 years)	SI, SVD, VSD