RESUMO
Renal glycosuria is an inherited disorder of renal tubule function in which significant amounts of glucose are excreted in the urine in the simultaneous presence of normal blood glucose levels. Renal glucose titration analyses and HLA genotypes were performed in 5 unrelated affected families with a total of 25 patients and 40 healthy relatives. In each family the gene responsible for renal glycosuria segregates with the HLA complex suggesting a close genetic linkage. 2 cases carry intra-HLA recombinant haplotypes; in these subjects our findings indicate that the abnormal gene is closer to the HLA-A locus than the HLA-B locus. No HLA-A, HLA-B or HLA-C specific antigen is selectively increased among the 5 unrelated families affected with renal glycosuria.
Assuntos
Ligação Genética , Glicosúria Renal/genética , Antígenos HLA/genética , Adolescente , Adulto , Feminino , Genes Dominantes , Genótipo , Glucose/análise , Glicosúria , Teste de Histocompatibilidade , Humanos , Rim/análise , Masculino , Pessoa de Meia-Idade , LinhagemRESUMO
In chronic renal failure both HbA1 and HbA1c levels have been reported to be elevated. In order to investigate the causes of such increase we measured HbA1 (cation-exchange chromatography), blood urea nitrogen, arterial blood pH, plasma bicarbonate, phosphatemia, serum iron and serum ferritin before dialysis in 60 uremic patients receiving long term hemodialysis. The increased levels of HbA1 do not correlate with glucose intolerance, phosphatemia, blood urea nitrogen, time averaged concentration of urea, serum iron and serum ferritin. On the contrary the presence of a highly significant correlation between HbA1 and arterial blood pH (p less than 0.001) and between HbA1 and plasma bicarbonate (p less than 0.001) seems to emphasize a major role for acidosis in increasing the HbA1 levels in uremic patients on long term hemodialysis.
Assuntos
Hemoglobinas Glicadas/análise , Hemoglobina A/análogos & derivados , Falência Renal Crônica/sangue , Acidose/sangue , Adulto , Idoso , Feminino , Teste de Tolerância a Glucose , Hemoglobina A/análise , Humanos , Masculino , Pessoa de Meia-Idade , Diálise Renal , Uremia/sangueRESUMO
In chronic renal failure both Hb A1 and Hb A1c levels have been reported to be elevated. In order to investigate the causes of such increase we measured Hb A1 (cation-exchange chromatography), blood urea nitrogen, arterial blood pH and plasma bicarbonate in 40 patients with chronic renal failure receiving conservative treatment, 45 uremic patients on intermittent hemodialysis and 60 subjects with normal renal function. In patients with chronic renal failure Hb A1 highly correlates with arterial blood pH and plasma bicarbonate, thus emphasizing the major role played by uremic acidosis in the increased Hb A1 fraction in chronic renal failure.
Assuntos
Acidose Tubular Renal/fisiopatologia , Hemoglobinas Glicadas/metabolismo , Falência Renal Crônica/sangue , Uremia/fisiopatologia , Adolescente , Adulto , Idoso , Artérias , Bicarbonatos/sangue , Sangue , Nitrogênio da Ureia Sanguínea , Cátions , Cromatografia por Troca Iônica , Feminino , Teste de Tolerância a Glucose , Humanos , Concentração de Íons de Hidrogênio , Falência Renal Crônica/fisiopatologia , Falência Renal Crônica/terapia , Masculino , Pessoa de Meia-Idade , Diálise Renal , Ureia/metabolismoRESUMO
HLA typing and a range of autoantibodies were evaluated in five families affected with type A renal glycosuria. HLA typing demonstrates that this inherited disease is controlled by an autosomal dominant gene located on chromosome six in close genetic linkage with the HLA complex. All affected family members have significant titres of autoantibodies to nuclear antigens, native DNA, smooth muscle, mitochondria, liver antigens, thyroglobulin, thyroid microsomes and renal tubule brush border with variable association. This suggests that renal glycosuria is a complex HLA-linked disease with increased susceptibility to multiple autoantibody production and this urges caution with respect to its classical definition as a benign condition.
Assuntos
Glicosúria Renal/imunologia , Adolescente , Adulto , Autoanticorpos/biossíntese , Feminino , Ligação Genética , Glicosúria Renal/genética , Antígenos HLA/genética , Humanos , Masculino , Pessoa de Meia-IdadeRESUMO
Total cholesterol (TC), triglycerides (TG), and lipoproteins (by electrophoresis on agarose gel) were determined in the cord blood of 124 Italian infants (Verona area). The mean TC and TG values, when compared with the values reported in other studies, turned out to be remarkably uniform, suggesting common genetic determinants in the modulation of blood lipids; no sex differences were observed. The TG distribution curve was skewed, overlapping the adult pattern. Cord blood TC and TG were not modified by the presence of perinatal factors. Both beta and alpha bands (on agarose gel electrophoresis) were present in all the cases. The pre-beta band was clearly detectable in 90% of the cases; it was barely visible for TG values below 20 mg/100 ml; occasionally a discrepancy between the intensity of the pre-beta band and the cord blood TG was observed, indicating a variable lipid composition of very low density lipoproteins (VLDL). In 4% of the cases a small band at the origin of the electrophoretic run was observed, consistent with the presence of chylomicrons. In the serum of both a newborn infant and its mother we detected a double band migrating in the pre-beta region. This finding confirms the hypothesis of a familial transmission of this abnormality.
