Renal transplantation in 22 children with nephropathic cystinosis

Abstract

In 1989, 22 children (11 boys, 11 girls aged 8-23 years) with nephropathic cystinosis, who had received a total of 28 renal allografts over the previous 14 years, were reviewed. Nineteen were alive, of whom 17 had functioning grafts 5 months to 13 years after transplantation. The mean serum creatinine level in these 17 was 135 mumol/l. Patient and graft survival did not differ from non-cystinotic children. Persistent hypothyroidism was found in 3 patients, transient diabetes mellitus in 1, severely disturbed vision in 1 and brain atrophy in 11. Arterial hypertension was present in 16 patients. Growth retardation was universal, although in 4 patients on cyclosporin A post-transplant catch-up growth occurred. Five patients over 15 years completed puberty. Readjustment in terms of school performance was good but was less good for psychosocial development. None of the patients had ever been treated with cystine-depleting agents; the data will therefore provide a historical control group with which to compare the results from a group treated with these agents.

Intellectual and motor performance, quality of life and psychosocial adjustment in children with cystinosis

“…However, at least two studies have been unable to find a correspondence between intellectual development and cognitive functioning and the degree of observed cerebral atrophy [39,43]. Patients not treated with cystine-depleting agents have been shown to suffer from ongoing cerebral atrophy [37]. In our small series of patients, the white matter myelination appeared to be normal on both the MRI and 1 H MRS scans.…”

“…Despite a growing understanding of the genetic, pathophysiological and therapeutic aspects of cystinosis [1][2][3][4][5][6][7][36][37][38], only limited information is available on the longterm developmental and psychosocial outcome of this disease. This study provides further information on intellectual and motor performance (IP and MP), quality of life (QOL) and psychosocial adjustment (PA) in children and adolescents with cystinosis.…”

Growth and pubertal development in nephropathic cystinosis

“…All patients are listed in Table 1. Most patients were included in earlier reports by our group [5,11,12,16,31,32]. Prior to transplantation all patients were supplemented with potassium, alkali, phosphate and vitamin D. None, however, was treated with cysteamine or growth hormone before the evaluation.…”

“…Although growth is retarded in most children with chronic renal insufficiency even after kidney transplantation [2,3,6,7,12,23,25,29] it appears to be particularly severe in cystinotic patients.…”

The Evaluation of the Renal Transplant Candidates: Clinical Practice Guidelines

“…Data from the U.S. Renal Data System indicated that 15 (83%) of 18 patients with cystinosis received renal transplants (2 living-related and 13 cadaveric), and the 3-year graft survival was over 75% (404). Several single-center studies have also reported excellent graft and patient survival (401,402,405,406). More recently, the North American Renal Transplant Cooperative Study reported that both cadaveric and living-related transplant outcomes were excellent for children with cystinosis (407).…”