Abstract | BACKGROUND: PATIENTS AND METHODS: We studied 2 african-american families (4 patients) which presented with both ADPKD and sickle-cell trait (Hb S <50%). The diagnosis of sickle-cell trait was confirmed by haemoglobin electrophoresis. The renal volume was measured by magnetic resonance imaging (MRI). RESULTS: The proband subject in family 1 presented frequent haematuria episodes, associated to increase of renal volume, developed very early ESRD and was dialyzed at the age of 39 years. The other 3 patients in family 2 presented different degree of renal function. CONCLUSIONS: The presence of sickle haemoglobin should be determined in african-american and west-african patients with ADPKD because it is an important prognostic factor. Coherence of sickle-cell trait may have influence on ADPKD evolution to ESRD and other complications, such as cystic haemorrhages. MRI can identify intracystic haemorrhage and permit renal volume measure.
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Authors | R Peces, C Peces, E Cuesta-López, C Vega-Cabrera, S Azorín, V Pérez-Dueñas, R Selgas |
Journal | Nefrologia : publicacion oficial de la Sociedad Espanola Nefrologia
(Nefrologia)
Vol. 31
Issue 2
Pg. 162-8
( 2011)
ISSN: 1989-2284 [Electronic] Spain |
Vernacular Title | Co-herencia de poliquistosis renal autosómica dominante y hemoglobina con rasgo falciforme en afroamericanos. |
PMID | 21461009
(Publication Type: Case Reports, Journal Article)
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Topics |
- Adult
- Aged
- Black People
(genetics)
- Child
- Disease Progression
- Dominican Republic
(ethnology)
- Female
- Hematuria
(etiology, surgery)
- Humans
- Kidney Failure, Chronic
(etiology, therapy)
- Kidney Papillary Necrosis
(etiology)
- Male
- Middle Aged
- Nephrectomy
- Polycystic Kidney, Autosomal Dominant
(complications, epidemiology, genetics, surgery)
- Renal Dialysis
- Sickle Cell Trait
(complications, ethnology, genetics)
- Spain
- Thrombophilia
(etiology)
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