AvanzaSalud Renal Familiar

Milagros Heras, Emilio Rodrigo, ALM de Francisco, Alberto Ortiz

SEN

Background-1• 63-year-old female starts dialysis

• Family History

• Both parents death, no high BP nor renal disease

• A healthy brother

• 9 children, 2 gout

• 3 years after her death, 67-year-old brother starts dialysis

•Hypertension, atherosclerosis

•Obesity

•ESRD attributed to hypertensive nephroangiosclerosis

•Medical history•CKD sCr 2,5 mg/dL, detected 1 year earlier•Hypertension•Obesity•Gout: negative screening for lead intoxication•Proteinuria 1.5 g/d•Small kidneys

•Dies 6 years later

Comments

• Family history may become outdated

• Advanced age does not exclude familial incidence of ESRD

• Familial screening may have identified relatives with CKD leading to medical care

• Hypertension, obesity

Genetics

vs

Environment

Background-2

• Familial incidence of ESRD (after exclusion of ADPKD and known hereditary disorders)

• Even for ESRD caused by different etiologic factors

• Most studies from the US: may not apply to Europe– High proportion of African Americans

– High prevalence of morbid obesity

Background-3

Background-4• ESRD patients have a 2.7-9 fold greater risk of having a relative with ESRD than the general

population (Lei JASN 1998)

• 23% of 25.000 US ESRD patients had a relative with ESRD (excluding known hereditary disease and urologic causes of ESRD) (Friedman Am J Nephrol 2005)

• 28% of 594 Canadian patients (vs 15% in control spouses) (O´Dea AJKD 1998)

• 11% of Polish patients (Gumprecht et al. J Nephrol 2003)

• Familial ESRD associated to:– Afro-american (in general, non-white)– Female sex– Etiology of ESRD: diabetes, hypertension, glomerulonephritis– Obesity– Earlier age at onset of ESRD

33% of physicians do not know that there is an increased incidence of ESRD in relatives of ESRD patients

AIMS

• To study the prevalence of familial ESRD and CKD among ESRD patients in Spain

• To identify and offer advice to families with CKD or ESRD

Secondary aims

• To identify risk factors for familial ESRD in Spain

• To study the prevalence of occult CKD (sCr, albuminuria) among relatives of ESRD patients in Spain: early treatment

• To identify new familial nephropathies (not diagnosed or not described)

• Identify genetic risk factors for progression to ESRD

Work plan

Pilot studyNationwide

study

A) Transversal epidemiological study

•Interview of ESRD patients

•Study of occult CKD in first degree relatives

B) Identification, study and follow-up of families with 2 or more members with CKD or ESRD

•Contact family members

•Instruct them to contact their physicians: physical exam plus basic analytical studies

•Offer specialized follow-up

Pilot study (H Valdecilla, Santander)

• Direct interview in dialysis patients, by phone in trasplant patients

• Two interviews within 2 weeks

Pilot study

Pilot study

• ESRD patients at H Valdecilla (Aug 25, 2006): 459

• Interviewed to date: (excluding ADPKD and other known hereditary diseases): 220 (133 HD y 87 Tx)

– Sex Male 152 (69%) Female 68 (31%)

– Age at initiation of RRT: 54 17 (11-85 years)

– Race: White 99%, Black: 2 (0.9%)

Pilot study. Cause of ESRD

• GN 61 (27.7%)

• DM 32 (14.5%)

• Vascular 57 (25.9%)

• Unknown 9 (4.1%)

• Interstitial 36 (16.4%)

• Others 25 (12%)

Pilot study. Prevalence of DM, hypertension, obesity

• DM 53 (24.2%)

• HTA 177 (80.8%)

• Obesity 34 (15.5%)

• Overweight 107 (49.5%)

0%

10%

20%

30%

40%

50%

60%

70%

80%

90%

100%

Pilot s tudy US s tudy

Norm al or decreased

Overweight

Obes ity

Morbid obes ity

Pilot study: ESRD or CKD in relatives

• ESRD– first degree relatives: 8 (3.6%)– second degree relatives : 6 (2.7%)– Any ESRD relative: 14 (6.4%)

• CKD– first degree relatives : 25 (11.4%)– second degree relatives : 20 (9.1%)– Any CKD relative : 43 (19.5%)

Pilot study: Presence of DM or hypertension in relatives

• DM– first degree relatives: 84 (38.2%)– second degree relatives: 57 (25.9%)– Any: 107 (48.6%)

• Hypertension– first degree relatives: 112 (50.9%)– second degree relatives : 52 (23.6%)– Any: 128 (58.2%)

Pilot study: associations with familial CKD

CKD 1+2 degree relative (43) No CKD (177) pSex (female) 44% 28% 0.036Cause of CKDGNDMVascularUnknownInterstitialOther

25.5%18.6%32.5%2.3%16.2%4.6%

28.2%13.5%24.2%4.5%16.3%12.9%

0.530

High BP 88.3% 78.9% 0.161DM 25.5% 23.8% 0.814Obesity 16.6% 15.5% 0.854Overweight 40.4% 51.7% 0.191

Pilot study: associations with familial CKD

CKD 1+2 degree relative (43) No CKD (177) pSex (female) 44% 28% 0.036Cause of CKDGNDMVascularUnknownInterstitialOther

25.5%18.6%32.5%2.3%16.2%4.6%

28.2%13.5%24.2%4.5%16.3%12.9%

0.530

High BP 88.3% 78.9% 0.161DM 25.5% 23.8% 0.814Obesity 16.6% 15.5% 0.854Overweight 40.4% 51.7% 0.191

Conclusions

• Pilot study– A significant proportion of Spanish ESRD patients have relatives with CKD or ESRD.

– While ESRD and diabetes were clearly identified, there was less knowledge about family history of hypertension and CKD

– The second interview generally did not improve the quality of the information

– Does the increase prevalence of familial ESRD in females reflect better knowledge of family matters?

• General– A more extensive study is warranted

– European figures may be lower than in the US

– Study of occult CKD in relatives of ESRD patients may uncover patients who will benefit from early treatment