PKD1 and PKD2 mutations in Slovenian families with autosomal dominant polycystic kidney disease

BMC Medical Genetics

Table 3 Clinical data of the patients from families 10, 11, 20, 25, 38 and 41 in which we identified presumably pathogenic changes

Patient	Mutation/gene	Gender	Age (years)	Age of onset (years)	Blood pressure	Serum creatinin (μmol/l)	Ultrasound of liver	Ultrasound of kidneys	Dialysis (age at start in years)	Additional symptoms
33 fam 10	c.916C>T p.R306X/PKD2	M	51	42	H	147	cysts in the left lobe and gallbladder	enlarged kidneys, large cysts, calcinations	no	cardiac hypertrophy, malfunction of mitral valve
35 fam 10	c.916C>T p.R306X/PKD2	F	23	14	N	62	lesion, arterial angioma	small cysts	no	focal nodular hyperplasia in liver
36 fam 10	c.916C>T p.R306X/PKD2	F	18	9	N	53	normal	small cysts	no
37 fam 11	c.12772dup/PKD1	M	58+	34	H	1418	cysts, cirrhosis	enlarged kidneys, numerous cysts	yes (46)	kidney stone, obstructive icterus
40 fam 11	c.12772dup/PKD1	F	23	11	N	82	normal	small cysts	no
77 fam 20	c.11820_ 11845del/PKD1	F	56	46	P	450	cysts	numerous cysts	yes (48)	idiopathic dilated cardiomyopathy
161 fam 20	c.11820_11845del/PKD1	M	47	40	H	399	normal	numerous cysts	yes (44)	persistent hepatitis B
89 fam 25	c.8522G>A p.E2771K/PKD1	M	65	38	N	200	enlarged	numerous cysts	no; first signs of insufficiency
90 fam 25	c.8522G>A p.E2771K/PKD1	F	42	28	N	normal	enlarged	numerous cysts	no
91 fam 25	c.8522G>A p.E2771K/PKD1	F	61	40	N	700–800	enlarged with portal hypertension	numerous cysts	yes (43)	headaches
92 fam 25	c.8522G>A p.E2771K/PKD1	M	40	32	N	normal	enlarged	numerous cysts	no
166 fam 38	c.11745+3_5 dup/PKD1	F	20	9	P	not measured	normal	enlarged kidneys, numerous small cysts	no	endometriosis
148 fam 41	c.11693_11697dup/PKD1	F	44	21	P	458	normal	enlarged kidneys, cysts	yes (44)	gallstones

M or F designate male or female patients. Normal values for blood pressure are less then 120/80 mm Hg, (in the table designated as N) values from 120/80 mm Hg up to 139/89 mm Hg indicate prehypertension (P) and values above 140/90 indicate hypertension (H). Normal values for serum creatinin are 70–115 μmoles/l for men and 52–97 μmoles/l for women. Cross (+) designates death of the patient at the age of 58 years. For relation of the patients in the families 10, 11 and 25 see Figure 2 [see Figure 2]. Patients 77 and 161 from the family 20 are sister and brother. Clinical data for the patient 198 from the family 50 were not complete therefore we did not include them in the Table 3.

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