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Results for “CYSTINOSIS”

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At least 289 records · Page 16Linked to original sources

PubMed1978

Course and prognosis of bone cystinosis in adolescent and or adults.

The authors refer to their observations on a case reported five years ago. On the basis of electron microscopy findings it was classified as benign bone cystinosis of the adolescent or of the adult. His subsequent clinical recovery, and the present radiographic findings, which show spontaneous and almost complete repair, confirm the validity of the diagnosis and the importance of electron microscopy in the etiology of this rare bone lesion.

Adolescent↗

PubMed1994

Glomerular lesions in juvenile cystinosis: report of 2 cases.

We report glomerular lesions in 2 siblings presenting a juvenile cystinosis. Kidney biopsy in one of them showed focal, segmental, mesangial proliferative and hyalinosis lesions, and the second showed segmental juxtahilar hyalinosis in one third of glomeruli. Neither of the 2 patients displayed a Toni-Debre-Fanconi syndrome. In one of the patients, cystine crystals were found by means of electronic microscopy. The first patient developed chronic renal failure and a kidney transplantation was performed. No recurrence of the cystine deposits was observed in the graft. Pedigree of the described family seems to be in accordance with an autosomal dominant pattern of inheritance.

Adult↗

PubMedDate not supplied

[Nephropathic cystinosis: report of 2 cases and review of the literature].

We describe two patients with infantile nephropathic cystinosis who presented nephrogenic diabetes insipidus in addition to Fanconi syndrome. After the diagnosis was confirmed by slit-lamp examination that showed crystallization of the cornea and by the presence of cystine crystals in the bone marrow, the patients underwent conservative and supportive treatment including correction of acidosis, replacement of fluid losses and protection from bone demineralization with replacement of phosphorus, calcium and vitamin D. Patient 1 deceased after an episode of bronchopneumonia complicated by profound acidosis. Patient 2 was started on cysteamine which effectively reduce cystine in body tissues and prevents or slows progression of end-organ damage.

Adolescent↗

PubMed1993

[A presumed case of "adolescent" cystinosis].

A 30-year-old female patient was presumed to have adolescent cystinosis because of the onset of glomerular nephritis in her twenties, and the absence of retardation of somatic growth, rickets, or retinopathy. Specular microscopy revealed fine needle-shaped and/or rectangular crystals in the corneal stroma. The crystals were birefringent hexagonal and/or rectangular in the conjunctival tissue. The cystine contents of conjunctival biopsies in the patient were 8.6-11.0 nmol/ml (assayed by high performance liquid chromatography.

Adult↗

PubMed1996

Effect of growth hormone treatment on pubertal growth in a boy with cystinosis and growth failure after renal transplantation.

Recombinant human growth hormone (rhGH) has proven effective in improving growth in short prepubertal children with chronic renal failure (CRF) before and after renal transplantation. However, its effect in pubertal patients is still doubtful. We report the case of a boy with nephropathic cystinosis and persistent growth failure despite successful renal transplantation who was treated with rhGH (30 i.u./m2 body surface area/week sc) from early puberty up to final height.

Child↗

PubMedDate not supplied

Nephropathic cystinosis (CTNS-LSB): construction of a YAC contig comprising the refined critical region on chromosome 17p13.

A yeast artificial chromosome (YAC) contig was constructed encompassing the entire region on chromosome 17p13 where the autosomal recessive disorder infantile nephropathic cystinosis (MIM 21980, CTNS-LSB) has been genetically mapped. It comprises seven clones ordered by their content of a series of six sequence-tagged sites (STSs). Fluorescence in situ hybridisation (FISH) revealed two chimaeric clones. The order of four polymorphic STSs mapped with the contig was consistent with that of the known genetic map with the exception of markers D17S1583 (AFMb307zg5) and D17S1798 (AFMa202xf5) where a telomeric location of D17S1583 was inferred from the contig; two non-polymorphic STSs were localised within the marker frame-work. From the analysis of recombination events in an unaffected individual as defined by leucocyte cystine levels we support the high-resolution mapping of this region to a small genetic interval and show that it is entirely represented on a single, non-chimaeric YAC clone in the contig.

Chromosome Mapping↗

PubMed1997

[Infantile cystinosis].

Infantile cystinosis is a metabolic lysosomal storage disease of cystine affecting most of the body cells. The first symptoms appear after 5-6 months of life: anorexia, vomiting, polyuria, polydipsia and failure to thrive, associated with the signs of tubular Fanconi syndrome including glycosuria, proteinuria, loss of bicarbonate, phosphate, potassium, sodium, etc. Treatment with cysteamine is effective if started as early as possible. This treatment delays or prevents the spontaneous evolution toward end-stage renal failure, usually between 6 and 12 years of age, and also prevents growth stunting. In the long term, other organs may be involved like eye, thyroid, endocrine pancreas, muscle and central nervous system. The diagnosis is ascertained by leucocytes cystine assay, also useful for the follow up and the adjustment of the treatment. Prenatal diagnosis is available on chorionic sample. The gene of the disease is not yet identified but is known to map to chromosome 17.

Child↗

PubMed1976

[Retinopathy and maculopathy in cystinosis (author's transl)].

Retinopathy and maculopathy combined with pseudoneuritis were observed in cystinosis. The disease was classified as a nephropathic process.

Child↗

PubMed2004

Long-term follow-up of well-treated nephropathic cystinosis patients.

We report the excellent clinical outcomes of siblings with nephropathic cystinosis treated diligently with cysteamine starting at 20 months and 2 months of age. Now 15 and 8 years old, they have glomerular filtration rates of 78 and 105 mL/min/1.73m 2 , respectively. These cases illustrate the critical importance of early diagnosis and treatment.

Cysteamine↗

PubMed1976

Effect of chronic salt and water loading on the tubular defects of a child with Fanconi syndrome (cystinosis).

A male child discovered to have cystinosis and Fanconi syndrome at the age of 2 years 8 months was hospitalized repeatedly for episodes of hyponatremic, hypokalemic dehydration and acidosis. Attempts to correct the fluid and electrolyte abnormalities by increasing progressively the supplements of sodium chloride, sodium bicarbonate, and potassium chloride resulted only in an exacerbation of the symptoms. Tests of discrete renal functions and metabolic balance studies disclosed that, although all disturbances were expressions of the primary disease, their severity was enhanced considerably by the extracellular volume expansion induced by the vigorous therapy. Restriction in water intake resulted in an improvement in the renal performance and in the clinical condition.

Absorption↗

PubMed1964