Background: Anemia is a common complication of Chronic Kidney Disease (CKD), in which iron deficiency’s (ID) role is frequently underrated. In CKD, anemia has been associated with higher morbidity and lower quality of life. Nonetheless, reported treatment rates of anemia in CKD are low and guidelines’ variability and/or absence for its management and treatment may be preventing patients from receiving optimal t...
Alport syndrome (AS) is caused by pathogenic mutations in the genes encoding α3, α4 or α5 chains of collagen IV (COL4A3/COL4A4/COL4A5), resulting in hematuria, chronic renal failure (CRF), sensorineural hearing loss (SNHL) and ocular abnormalities. Mutations in the X-linked COL4A5 gene have been identified in 85% of the families (XLAS). In this study, 22 of 60 probands (37%) of unrelated Portuguese families, wi...
Pathogenic mutations in genes COL4A3/COL4A4 are responsible for autosomal Alport syndrome (AS) and thin basement membrane nephropathy (TBMN). We used Sanger sequencing to analyze all exons and splice site regions of COL4A3/COL4A4, in 40 unrelated Portuguese probands with clinical suspicion of AS/TBMN. To assess genotype-phenotype correlations, we compared clinically relevant phenotypes/outcomes between homozygo...
A prospective prevalence study of Renal Failure (RF) in inhospital patients (creatinine > = 1.7 mg/dl) was carried out during March 1994, in two hospitals covering well defined and mutually exclusive populations. Cases were selected by screening all urea and creatinine blood tests performed in both laboratories, and registered in an individual form for daily follow-up of their nephrologic outcome. We registered...
Diaphragmatic Pacing was used to treat ventilatory failure in a young boy with bilateral diaphragmatic palsy secondary to cervical cord injury, on chronic mechanical ventilation for 6 months. The indications for diaphragmatic pacing in ventilatory failure were discussed, as well as the assessment of phrenic nerve integrity and the pacing schedules utilized to slowly improve the diaphragm endurance and achieve a...
To study the effect of the correction of post-transplantation Hypophosphatemia on mineral metabolism.15 patients with renal transplants for 3 to 12 months, Serum Creatinine "177 micmol/1, were treated with oral phosphorus (P) for persistent hypophosphatemia.3 periods of blood and urine collection at intervals of 3 weeks. T1 under basal treatment with oral P, T2 after 3 weeks off medication with P, Ca, or P bind...
To test the efficacy and safety of a low molecular. Weight heparin (LMWH)--Fraxiparine, for hemodialysis (HD) anticoagulation, compared with conventional heparin (H) or serum lavage without other anticoagulation (L).Prospective controlled study.Twenty-nine consecutive patients referred for dialysis in a tertiary care hospital were divided in 3 groups A, B and C, each group A and B patient submitted to 2 dialysi...
Eighteen hemodialysis patients with the diagnosis of mesenteric ischemia (MI), admitted to the Renal Service in the last 5 years, were retrospectively reviewed. All patients, 10 males and 8 females, average age 66.3 +/- 8.6 years, were complaining of acute abdominal pain without other specific clinical or laboratorial findings, had their diagnosis confirmed during laparatomy, with ischemic involvement of the il...