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PubMed1990

[Treatment of cystinosis using cysteamine].

Eighteen pediatric patients with cystinosis were treated with cysteamine. Treatment was started at a variable age, between 10 months and 7 years, and was continued for 6 months to eight years. Results were evaluated on renal function changes and growth. Whereas 65% of patients with cystinosis develop terminal renal failure before the age of ten years, three (16%) of our 18 patients given cysteamine started dialysis before the age of ten and all three had first received cysteamine only after 4 1/2 years of age. The plasma creatinine level was also lower in treated patients as compared with a control multicenter group. Growth was also significantly improved by treatment, especially in those children treated before the age of 26 months who were taller by 2 SD at age five and 2.5 SD at age eight than untreated controls. Some children who complied strictly with the treatment regimen had an normal stature (- 1 SD) at ten years of age. In conclusion, the effectiveness of cysteamine seems obvious in this group of patients if rigorous compliance with the drug dosing schedule is achieved.

Child↗
PubMed1987

[Cystinosis in an 8-month-old girl].

A case of nephropathic cystinosis (Abderhalden-Lignac-Kaufmann disease) in a 8-month girl is reported. Features of pathomorphologic changes in the viscera are described, in kidneys, in particular. The changes described occur not only in the renal tubular system, but also in the glomeruli with the development of sclerosis in them, are more common in older children and may be considered as an intermediate form of cystinosis.

Cystinosis↗
PubMed1987

Nephropathic cystinosis: effect of long-term cysteamine therapy.

Three children with nephropathic cystinosis received cysteamine therapy, mostly in the form of phosphocysteamine, for more than six years. The patients were between two and three years of age at the start of the study. The daily dose of cysteamine was 60 mg/kg as cysteamine base. In all three, rapidly progressive renal failure occurred before their 10th birthday. When comparing their evolution with data on the natural history of childhood cystinosis, no improvement was observed in terms of growth and glomerular function. It is concluded that cysteamine therapy did not provide clear benefit to the three patients reported here.

Body Height↗
PubMed1987

[Late onset cystinosis. Apropos of a case].

This report concerns a new case of late onset cystinosis with heavy proteinuria. Renal biopsy showed focal segmental glomerular hyalinosis and the usual tubular and glomerular lesions of cystinosis. The pathogenesis of glomerular hyalinosis remains unclear.

Adolescent↗
PubMed1974

The pathology of the kidney in cystinosis.

The etiology and pathogenesis of the variable glomerular, tubular and interstitial functional and anatomic abnormalities in the kidney in cystinosis are not known. The doctrine that the abnormalities are consequent to accumulation of crystals of cystine must be questioned. Not previously appreciated, the podocyte is notably affected in cystinosis.

Child, Preschool↗
PubMed1984

Pituitary secretion of alpha and beta subunits of thyroid-stimulating hormone (TSH) in nephropathic cystinosis.

In 13 children with nephropathic cystinosis but without clinical features of hyperthyroidism or hypothyroidism, mean circulating thyroid-stimulating hormone (TSH) levels were high, while concentrations of thyroid hormones were either increased or in the high-normal range compared with those in age-matched, healthy control subjects. Serum TSHalpha was significantly elevated and was above the normal range in 7 of 12 patients; in contrast, only 2 of 13 patients had minimally increased TSHbeta levels. Patients with cystinosis appear to have pituitary resistance to thyroid hormones, and the increase in serum TSH is often associated with high levels of TSHalpha .

Child↗
PubMed1981

Treatment of cystinosis with cysteamine. A pilot study determining dose and form of application.

A pilot study with cysteamine treatment was performed in three children with the nephropathic form of cystinosis. Two children underwent renal transplantation shortly before treatment. The aim of the study was to find a practicable form of application and a corresponding effective dose. Cysteamine in gelatine capsules together with 0.2% silicic acid as a dessicator turned out to be the most acceptable galenic form, compared to sirup or suppositories. Among three dosage regimens, the dosage of 50 mg/kg/day is effective as judged by the leucocyte cystine content, even if given in only three doses per day. No side effects of the cysteamine treatment (even at a dose of 90 mg/kg/day) were noted. Whether this treatment is preventing progression of disease will have to be examined either in transplanted patients by measuring non-renal parameters or in very young infants with cystinosis whose kidneys are not damaged yet.

Child, Preschool↗
PubMed1981

Ascorbic acid treatment in nephropathic cystinosis in identical twins.

Metabolic studies were performed on two HLA identical 9 1/2-year-old twins with nephropathic cystinosis during 14 months' participation in a double-blind study to evaluate ascorbic acid treatment for cystinosis. Replacement therapy was identical in both children throughout the study except for the use of ascorbic acid. Leukocyte cystine content was markedly abnormal and elevated in both children prior to, during, and after the ascorbic acid study. We postulate that the lack of improvement in growth or chemical parameters in the twin treated with ascorbic acid was due to the ineffectiveness of ascorbic acid in decreasing intracellular cystine content.

Amino Acids↗
PubMed1978

[Thyroid involvement in cystinosis].

Thyroid function was assessed in 15 children with cystinosis and it was abnormal in 12. Three of these children were clearly hypothyroid and in the other 9 there were abnormalities of TSH or in the response to TRF. Compensated hypothyroidism is frequent in cystinosis and may be one factor in the severe growth retardation in this condition. The preliminary results of replacement therapy support this hypothesis.

Adolescent↗
PubMed1976

[Sexchromatin determination in a corneal graft in adult cystinosis (author's transl)].

On the basis of the distribution of F-bodies (Y-Chromatin) and Barr-bodies (X-Chromatin) in a lamellar keratoplasty from a female donor and in the surrounding male corneal tissue of a 55-year-old male patient with adult cystinosis a few female corneal epithelial cells could be identified 7 years after corneal tissue-graft had been performed. It was concluded that after keratoplasty epithelial cells grow into each other, i.e. from the graft to the host tissue and vice versa. The fact that even after 7 years female epithelial cells from the donor can still be detected is put down to the metabolic condition resulting in cystinosis.

Corneal Transplantation↗
PubMed1995

[Lysosomal membrane transport disorders--cystinosis and sialic acid storage disorders (Salla disease, ISSD)].

Cystinosis and sialic acid storage diseases (Salla disease, ISSD; infantile sialic acid storage disease) are lysosomal membrane disorders resulting from defective carrier-mediated transport of cystine and sialic acid across the lysosomal membrane. Both are rare autosomal recessively inherited disorders. The major clinical manifestations of cystinosis are renal failure and ocular damages. Sialic acid storage diseases are characterized by various degrees of psychomotor retardation. Salla disease patients trace a mild clinical course, and the life span is relatively long. While, in patients with ISSD follow a very severe progressive clinical course and often die in the first year of life. The genes responsible for each disease have not been isolated, the etiologies are not well known, and there is no specific treatment.

Biological Transport↗
PubMed2002

Inhibition of Na(+)-dependent transporters in cystine-loaded human renal cells: electrophysiological studies on the Fanconi syndrome of cystinosis.

Cystinosis is the most common cause of the renal Fanconi syndrome in children, leading to severe electrolyte disturbances and growth failure. A defective lysosomal transporter, cystinosin, results in intralysosomal accumulation of cystine. Loading cells with cystine dimethyl ester (CDME) is the only available model for this disease. This model was used to present electrophysiologic studies on immortalized human kidney epithelial (IHKE-1) cells that had been derived from the proximal tubule with the slow whole-cell patch clamp technique. Basal membrane voltages (V(m)) of IHKE-1 cells were -30.7 +/- 0.4 mV (n = 151). CDME concentration-dependently altered V(m) with an initial depolarization (2.7 +/- 0.2 mV;n = 76; 1 mM CDME) followed by a more pronounced hyperpolarization (-9.9 +/- 1.0 mV;n = 49). Three Na(+)-dependent transporters were examined. Alanine (1 mM) depolarized IHKE-1 cells by 17.6 +/- 0.7 mV (n = 59), and phosphate (1.8 mM) depolarized by 9.7 +/- 1.1 mV (n = 18). Acidification of IHKE-1 cells with propionate (20 mM) resulted in a depolarization of V(m) by 7.1 +/- 0.3 mV (n = 21) followed by a repolarization by 2.9 +/- 0.3 mV/min (n = 17), reflecting Na(+)/H(+)-exchanger activity. Acute addition of 1 mM CDME did not alter the alanine- and propionate-induced changes in V(m), but it reduced the phosphate-induced depolarization by 37 +/- 9% (n = 10). Incubation with 1 mM CDME reduced the activity of all three transporters. Depolarizations by alanine and phosphate and the repolarization after propionate were inhibited by 57 +/- 4% (n =30), 45 +/- 9% (n = 9), and 78 +/- 15% (n = 8), respectively. In conclusion, this study demonstrates that CDME acutely alters V(m) of IHKE-1 cells and that at least three Na(+)-dependent transporters are inhibited, the Na(+)-phosphate cotransporter most sensitively. This might suggest that phosphate depletion and dissipation of the Na(+)-gradient are involved in the development of the Fanconi syndrome of cystinosis.

Alanine↗
PubMed1978

Adult cystinosis. A case report.

A 41-year-old man, referred because of the suspicion of retinal detachment, was found to have retinoschisis, moderately severe renal disease, and adult cystinosis with crystals in the cornea and conjunctiva. Conjunctival crystals were demonstrated by light and electron microscopy, and chemical analysis confirmed the presence of excessive amounts of cystine. Studies of renal tissue showed changes that were interpreted as being due to hypertensive vascular disease. Light and electron microscopic examination of kidney tissue showed no cystine crystals, and chemical analysis indicated only trace amounts of cystine.

Adolescent↗
PubMed1977

Ultrastructure of the liver in a case of childhood cystinosis.

Ultrastructural findings in the liver in a case of childhood cystinosis are reported. Crystalline structures were found mainly in Kupffer cells. The presence of dark cells, with or without crystals, was the most striking feature observed. Such cells have already been noted within the kidney on one occasion when it was shown that the dark substance was L-cystine (Spear et al., 1971). In this case identical dark material was also found extracellularly. The data shows that free cystine can fill cell cytoplasm and extracellular spaces and the possibility that cystine overproduction may take place in the hyaloplasm should be considered. Extracellular location of cystine in the tubules might account for an increase in epithelial permeability and thus for the Fanconi syndrome.

Child↗
PubMed1991

Renal transplantation in 22 children with nephropathic cystinosis.

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.

Adolescent↗
PubMed1995

Hypercalciuria and ultrasound abnormalities in children with cystinosis.

We noted microscopic haematuria in children with cystinosis. To investigate this we studied urinary calcium excretion and undertook renal ultrasound scans. Most patients had elevated urinary calcium excretion and all had abnormal appearances on ultrasound scan, ranging from increased cortical echogenicity only to those with increased cortical and medullary echogenicity. The ultrasound scan appearance was graded and correlated with laboratory parameters. It remains unclear as to the aetiology of the ultrasound findings and whether they are a consequence of treatment or a hitherto unrecognised feature of the disease.

Calcium Metabolism Disorders↗
PubMed1993

Hypercholesterolemia in children with cystinosis.

Ten children with cystinosis had their diet, serum creatinine, and total cholesterol (averaged in 6-month blocks and normalized by calculating a z score (TCz)] monitored for a mean of 5 years. The TCz scores were elevated in boys (P < 0.01) but not girls (P = 0.67). The boys had elevated TCz scores for 58% of their 29 pre-transplantation years of follow-up, rising as early as 1 year of age at a mean rate of 0.67 standard deviations per year. Cystinotic boys had higher TCz scores than children with other tubular disorders (P < 0.025). All 4 cystinotic boys who developed renal insufficiency had a rise in TCz scores at a rate greater than control children with comparable renal impairment. Two cystinotic boys received a renal transplant; subsequent TCz scores were markedly lower, but remained elevated. The nutritional status of cystinotic children deteriorates after 3 years of age: they have decreased fat stores, elevated TCz scores and consume high fat diets insufficient in total calories. In summary, cystinotic boys have marked, progressive hypercholesterolemia which improves after renal transplantation.

Child↗