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Avanza Salud Renal Familiar

Avanza Salud 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. Medical history

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Avanza Salud Renal Familiar

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  1. AvanzaSalud Renal Familiar Milagros Heras, Emilio Rodrigo, ALM de Francisco, Alberto Ortiz SEN

  2. 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 • 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 • 3 years after her death, 67-year-old brother starts dialysis • Hypertension, atherosclerosis • Obesity • ESRD attributed to hypertensive nephroangiosclerosis

  3. Comments • Family history may become outdated • Advanced age does not exclude familial incidence of ESRD • Familial screening may have identified relatives with CKD leading to medical care • Hypertension,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

  4. Background-2 Genetics vs Environment

  5. Background-3 • 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

  6. 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

  7. 33% of physicians do not know that there is an increased incidence of ESRD in relatives of ESRD patients

  8. 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

  9. 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

  10. Work plan • A) Transversal epidemiological study • Interview of ESRD patients • Study of occult CKD in first degree relatives Nationwide study Pilot study • 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

  11. Pilot study (H Valdecilla, Santander) • Direct interview in dialysis patients, by phone in trasplant patients • Two interviews within 2 weeks

  12. Pilot study

  13. 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%)

  14. 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%)

  15. Pilot study. Prevalence of DM, hypertension, obesity • DM 53 (24.2%) • HTA 177 (80.8%) • Obesity 34 (15.5%) • Overweight 107 (49.5%)

  16. 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%)

  17. 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%)

  18. CKD 1+2 degree relative (43) No CKD (177) p Sex (female) 44% 28% 0.036 Cause of CKD 0.530 GN 25.5% 28.2% DM 18.6% 13.5% Vascular 32.5% 24.2% Unknown 2.3% 4.5% Interstitial 16.2% 16.3% Other 4.6% 12.9% High BP 88.3% 78.9% 0.161 DM 25.5% 23.8% 0.814 Pilot study: associations with familial CKD Obesity 16.6% 15.5% 0.854 Overweight 40.4% 51.7% 0.191

  19. CKD 1+2 degree relative (43) No CKD (177) p Sex (female) 44% 28% 0.036 Cause of CKD 0.530 GN 25.5% 28.2% DM 18.6% 13.5% Vascular 32.5% 24.2% Unknown 2.3% 4.5% Interstitial 16.2% 16.3% Other 4.6% 12.9% High BP 88.3% 78.9% 0.161 DM 25.5% 23.8% 0.814 Pilot study: associations with familial CKD Obesity 16.6% 15.5% 0.854 Overweight 40.4% 51.7% 0.191

  20. 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

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