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Query: UMLS:C0035078 (renal failure)
 31,970 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report the case of a patient with infantile nephropathic cystinosis who required renal transplantation at age 30 months. Exhaustive evaluation did not identify a cause of progressive renal failure other than cystinosis. The patient's genetic lesion was allelic with those of other patients with cystinosis; fusion of this patient's fibroblasts with fibroblasts from another patient with infantile nephropathic cystinosis did not demonstrate complementation of the biochemical defect.
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PMID:Early occurrence of end-stage renal disease in a patient with infantile nephropathic cystinosis. 155 98

The central nervous system has been considered to be uninvolved in nephropathic cystinosis. Survival into adulthood, following renal dialysis and transplantation, has brought attention to the sequelae of long-standing cystinosis. We examined 14 patients with cystinosis, 12 of whom had undergone renal transplantation. Two patients had neurologic symptoms. One patient had progressive bradykinesia, dementia, and spasticity with computed tomographic scan evidence of cerebral atrophy and multifocal mineralization in bilateral internal capsules and periventricular white matter. One patient had behavioral and, to a lesser extent, cognitive disturbance and computed tomographic scan evidence of marked, progressive cerebral atrophy. Although the remaining patients had normal results of neurologic examinations, 11 had roentgenographic evidence of generalized cerebral atrophy; 2 of these had abnormal electroencephalograms, 1 had borderline-deficient intellectual function, and 2 had computed tomographic scan evidence of multifocal, intracerebral mineralization. The patients with nervous system abnormalities were not distinguished by patterns of medication use, demographic or laboratory features, or the relative severity of cystinosis. Although the neurologic involvement in these patients suggests that cystinosis may eventually involve the central nervous system, the differential diagnosis must include other complications from renal failure, dialysis, and immunosuppression.
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PMID:Neurologic complications in long-standing nephropathic cystinosis. 271 51

Fifteen patients with nephropathic cystinosis, ranging in age from 13 to 27 years, were studied. Two were in renal failure; 13 had functioning renal allografts; 5 had severe, uncorrectable loss of visual acuity as well as posterior synechiae and crystal deposits on the lens surface. All 15 patients had photophobia and corneal erosions to variable degrees. All patients were growth retarded with delayed bone ages. Puberty occurred late, but was generally complete by 17 years of age. Hepatic function appeared normal. Only 1 patient had neurological deterioration, but 11 patients had some degree of cerebral atrophy radiologically. The continued accumulation of cystine within cystinotic tissues results in serious extrarenal complications many years after renal transplantation in cystinosis.
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PMID:Complications of nephropathic cystinosis after renal failure. 315 86

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.
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PMID:Nephropathic cystinosis: effect of long-term cysteamine therapy. 360 56

A 13-month-old infant was admitted to our Institution because of difficult metabolic control of diabetes mellitus. Clinical and laboratory findings revealed that the child was affected by both insulin-dependent diabetes mellitus and nephropathic cystinosis. Treatment with indomethacin was associated with growth improvement at an early stage of renal insufficiency, but not in more advanced renal failure.
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PMID:Infantile cystinosis and insulin-dependent diabetes mellitus. 381 59

The psychosocial and intellectual development of 12 children with infantile nephropathic cystinosis was investigated longitudinally by use of biographical data, long-term behavioral observations and psychological assessment. Of the 12 patients, eleven suffered terminal renal failure and 7 of these were followed up after renal transplantation. In spite of the severe illness and the resulting unusual life conditions the patients showed normal intellectual capacity and most of them average school performance. The patients were socially adapted, their behavior was predominantly cooperative, shy and reserved, but depressive at times. After transplantation the children became more active and outgoing. However, growing discrepancies between their physical development and their emotional and social age may lead to adaptational problems at adolescence which may require psychological counselling.
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PMID:Psychosocial and intellectual development in 12 patients with infantile nephropathic cystinosis. 676 Jun 61

The biochemical hallmark of nephropathic cystinosis is the intralysosomal accumulation of free cystine in various organs, including the conjunctiva, cornea, bone marrow, leukocytes, lymph nodes, and internal organs. A patient with the infantile form of nephropathic cystinosis develops several renal tubular malfunctions during the first year of life; these eventually lead to end-stage renal failure and eventual death by the time the patient is 10 years of age. Ocular changes are prominent and may be so typical that an early diagnosis can be achieved by an ophthalmologic examination before the nephropathic signs become evident.
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PMID:Nephropathic cystinosis: ineffectiveness of cysteamine therapy for ocular changes. 684 66

Primary hypothyroidism is a known complication of nephropathic cystinosis, a lysosomal storage disorder characterized by renal failure as well as deterioration of other organs. The drug cysteamine depletes lysosomes of cystine and helps preserve renal function and enhance growth in cystinosis patients. To determine whether cysteamine also prevents hypothyroidism, we retrospectively divided 101 patients into group A (n = 28; well treated), group B (n = 26; partially treated), and group C (n = 47; poorly treated). Lifetable analysis indicated a significantly higher probability of remaining free of L-T4 replacement in group A vs. group B (P = 0.09) or group C (P = 0.004). Cysteamine therapy also improved mean height z-scores (-2.17 in group A, -3.04 in group B, and -4.07 in group C) and reduced the bone age deficit (i.e. chronological age minus bone age) by 1.5 yr for every 10 yr of previous cysteamine therapy. We conclude that in addition to its other salutary effects, oral cysteamine therapy helps prevent hypothyroidism and enhances growth in patients with nephropathic cystinosis.
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PMID:Effects of early cysteamine therapy on thyroid function and growth in nephropathic cystinosis. 759 34

In a historical group of 205 patients with infantile or adolescent cystinosis treated without cysteamine, the rate of deterioration of renal function was analysed retrospectively. Patient survival curves and renal survival data are presented. Longitudinal data of serum creatinine values (n = 3280) in 157 patients were plotted for each patient, smoothed by the method of the running medians and grouped into 12 serum creatinine classes. In every patient the age at the last smoothed serum creatinine value observed in each serum creatinine class was determined. These virtual age values were then summarized per serum creatinine class, expressed as median and centiles and plotted, thus describing the "natural" course of the disease. In 9 pairs of affected siblings the rate of progression showed a median difference of about 12 months. Our data describe the "natural" course of nephropathic cystinosis and can be used as a prognostic aid for recently detected patients. The data can also be applied for the assessment of the influence of new therapeutic strategies on the rate of progression of renal failure in cystinotic patients.
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PMID:Progression of chronic renal failure in a historical group of patients with nephropathic cystinosis. European Collaborative Study on Cystinosis. 794 39

Nephropathic cystinosis is a lysosomal storage disorder leading to renal failure by age 10 years. Prolonged patient survival following renal transplantation has allowed the development of previously unknown long-term complications. Muscle involvement has been reported in a single posttransplant cystinosis patient, but the range of clinical, electrophysiologic, and histologic features has not been fully described. Thirteen of 54 post-renal-transplant patients that we examined developed weakness and wasting in the small hand muscles, with or without facial weakness and dysphagia. Tendon reflexes were preserved and sensory examinations were normal. Electrophysiologic studies in 11 affected patients showed normal nerve conduction velocities and preserved sensory action potentials. The voluntary motor units in the affected distal muscles had reduced amplitude and brief duration, confirmed with quantitative electromyography in 4 patients. Biopsy of the severely affected abductor digiti minimi or extensor carpi radialis brevis muscles in 2 patients revealed marked fiber size variability, prominent acid phosphatase-positive vacuoles, and absence of fiber type grouping or inflammatory cells. Crystals of cystine were detected in perimysial cells but not within the muscle cell vacuoles. The muscle cystine content of clinically affected muscles was markedly elevated. We conclude that a distal vacuolar myopathy is a common late complication of untreated nephropathic cystinosis. Although the cause is unclear, the general lysosomal defect in this disease may also affect the lysosomes within muscle fibers.
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PMID:Distal vacuolar myopathy in nephropathic cystinosis. 810 99


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