Mortality in patients receiving renal replacement therapy, a single center study.

We studied all patients receiving renal replacement therapy (RRT) in the Kennemer Gasthuis Dialysis Centre (Haarlem) during the period January 1st 1986 to January 1st 1991 in order to evaluate their mortality. Of the total number 205 patients, 76 had died in this period, 82 were still receiving RRT on December 31st 1991 and 47 had been transplanted. The most frequent cause of death was cardiovascular. Of the 76 patients who had died, 38 had requested cessation of dialysis. Of these, 26% had also a malignancy and 29% had irreversible brain damage (CVA, dementia). Compared to the expected mortality rate in the general population of The Netherlands, dialysis patients have a Standardized Mortality Rate (SMR) of 6.91 (95% Confidence Interval (CI) 4.72-9.54). Male patients had a SMR twice as high as females. Patients under age 50 had a SMR of 50.00 (95% CI 8.93-124.40) versus 50 and older 7.19 (95% CI 4.26-8.91). The SMR was similar for patients with and without cardiovascular comorbidity before entering RRT. A Kaplan-Meier plot showed a significant difference for not transplantable versus transplanted or transplantable patients, however SMR for these 3 groups revealed no difference. A Kaplan-Meier plot of patient survival of patients starting RRT after January 1986 (n = 114) showed a linear decrease of 20% yearly mortality. No gender difference was found. We conclude that 1. RRT is associated with high mortality, 2. SMR of young patients is higher than of the elderly and SMR of men is twice as high as SMR of women. Interestingly Kaplan-Meier survival plot did not reveal this difference.(ABSTRACT TRUNCATED AT 250 WORDS)

Some findings in patients with uraemic stomatitis.

Uraemic stomatitis may occur in patients with advanced renal failure. Thirteen patients with severe oral lesions due to their uraemic state are discussed. The stomatitis became manifest after a few days of severe renal failure (blood urea level was at least 20 mnol./1) and persisted for 2-3 weeks even when the urea concentration had decreased.

Percutaneous chemolitholysis of cystine stones. Possibilities for ambulatory procedure.

We report on a patient with symptomatic cystine calculi in a solitary kidney in whom percutaneous pelviocaliceal irrigation with tromethamine-E was performed as an ambulatory procedure for a significant period of time. Our experience demonstrates that in selected cases this form of treatment is well-tolerated.

Identification of four novel mutations in the COL4A5 gene of patients with Alport syndrome.

The type IV collagen alpha 5 chain (COL4A5) genes of patients with Alport syndrome were tested for major gene rearrangements by Southern blot analysis, using COL4A5 cDNA clones as probes. In addition, individual exons were screened for small mutations by single-strand conformation polymorphism (SSCP) analysis. Four new COL4A5 mutations were detected. A duplication of the nine most 3' located nucleotides of exon 49 and the first nucleotide of intron 49 was identified in the COL4A5 gene of one patient. Two patients displayed single base substitutions leading to, respectively, a proline to threonine and an arginine to glutamine substitution in the C-terminal end. Both substitutions involve amino acids conserved through evolution. In COL4A5 intron 41 a mutation changing the splice acceptor site from AG to AA was identified. All mutations cosegregate with the clinical phenotype of Alport syndrome in affected family members. In a control population of 50 individuals tested by PCR-SSCP these mutations were never identified. Together with two mutations reported previously, a total of six mutations were found in 26 patients with Alport syndrome (23%) after systematic screening of about 30% of the COL4A5 coding region. The clinical features of these six patients are described in detail.