RESUMO
BACKGROUND: Macroscopic haematuria secondary to renal cyst rupture is a frequent complication in autosomal dominant polycystic kidney disease (ADPKD). Sickle-cell disease is an autosomal recessive haemoglobinopathy that involves a qualitative anomaly of haemoglobin due to substitution of valine for the glutamic acid in the sixth position of 3-globin gene on the short arm of chromosome 11. For the full disease to be manifested, this mutation must be present on both inherited alleles. The severity of the disease is proportional to the quantity of haemoglobin S (Hb S) in the red cells; sickle-cell trait (Hb S <50%) and homozygous sickle-cell disease (Hb S >75%). In sickle-cell disease, the abnormal Hb S loses its rheological characteristics and is responsible of the various systemic manifestations including those of the kidney, such as macroscopic haematuria secondary to papilar necrosis. Despite the generally benign nature of the sickle-cell trait, several potentially serious complications have been described. Metabolic or environmental changes such as hypoxia, acidosis, dehydration, hyperosmolality or hyperthermia may transform silent sickle-cell trait into a syndrome resembling sickle-cell disease with vaso-occlusive crisis due to an accumulation of low deformable red blood cells in the microcirculation originating haematuria from papilar necrosis. On the other hand, it has been demonstrated an earlier onset of end-stage renal disease (ESRD), in blacks with ADPKD and sickle-cell trait when compared with blacks with ADPKD without the trait. 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.
Assuntos
Rim Policístico Autossômico Dominante/complicações , Traço Falciforme/complicações , Adulto , Idoso , População Negra/genética , Criança , Progressão da Doença , República Dominicana/etnologia , Feminino , Hematúria/etiologia , Hematúria/cirurgia , Humanos , Falência Renal Crônica/etiologia , Falência Renal Crônica/terapia , Necrose Papilar Renal/etiologia , Masculino , Pessoa de Meia-Idade , Nefrectomia , Rim Policístico Autossômico Dominante/epidemiologia , Rim Policístico Autossômico Dominante/genética , Rim Policístico Autossômico Dominante/cirurgia , Diálise Renal , Traço Falciforme/etnologia , Traço Falciforme/genética , Espanha , Trombofilia/etiologiaRESUMO
In order to establish an idea of the future of continuous ambulatory peritoneal dialysis, it is necessary to know the present application of this method, which if it used for a greater number of patients each time, it is performed occasionally with deficient resources and on patients nor selected properly. A possible solution is a very well established peritoneal dialysis program which can "support" an active renal transplant program. It would be interesting to make a prospective and aleatory study between peritoneal dialysis and hemodialysis. It is required to improve: the disconnecting system to the peritoneal catheter, the subcutaneous implantation method, to use the adequacy of the dialysis concept, to design methods to favor the duration and durability of the human peritoneum and look deeply into the opportune and correct treatment of peritonitis and to increase the automatic peritoneal dialysis systems. In the future of peritoneal dialysis we cannot overlook looking deeply into the peritoneum cellular biology in order to use the peritoneum taking into consideration the biology of its cells. DPCA has a bright future and it should play a more important role in the treatment of uremia.