Download - Avanza Salud Renal Familiar Milagros Heras, Emilio Rodrigo, ALM de Francisco, Alberto Ortiz SEN
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AvanzaSalud Renal Familiar
Milagros Heras, Emilio Rodrigo, ALM de Francisco, Alberto Ortiz
SEN
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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
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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• Family history may become outdated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
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Genetics
vs
Environment
Background-2
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• 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
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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
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33% of physicians do not know that there is an increased incidence of ESRD in relatives of ESRD patients
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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
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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
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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
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Pilot study (H Valdecilla, Santander)
• Direct interview in dialysis patients, by phone in trasplant patients
• Two interviews within 2 weeks
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Pilot study
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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%)
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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%)
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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
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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%)
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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%)
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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
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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
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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