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Cystinosis

Cystinosis is a hereditary dysfunction of the renal tubules characterized by the presence of carbohydrates and amino acids in the urine, excessive urination, and low blood levels of potassium ions and phosphates. more...

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Medicines

Cause

It is caused by abnormal transport of the amino acid cystine from lysosomes of all tissues, resulting in a massive intra-lysosomal cystine accumulation. Via an as yet unknown mechanism, lysosomal cystine appears to amplify apoptosis such that cells die inappropriately, leading to loss of renal epithelial cells, accounting for the renal Fanconi syndrome, and simlar loss in other tissues can account for the short stature, retinopathy, and other features of the disease.

Symptoms

Symptoms include Fanconi Syndrome, photophobia, stunted growth and rickets. It is currently being researched at UC San Diego, Tulane University School of Medicine, and at the National Institutes of Health in Bethesda, Maryland.

Genetics

The cause of cystinosis is due to a mutation in the gene CTNS which codes for cystinosin, the lysosomal cystine transporter. Symptoms are seen about 6-18 months of age with profound polyuria ( excessive urination), followed by poor growth, photophobia, and ultimately kidney failure by age 10 years in the nephropathic form. It is importanat for the child to see a biochemical geneticist and pediatric nephrologist to begin cyteamine as early as possible. Cysteamine decreases the amount of cystine stored in lysosomes and correlates with conservation of renal function and improved growth. Cysteamine eyedrops remove the cystine crystals in the cornea that cause photophobia and may impair vision after age 20 years. All forms of cystinosis ( nephropathic, juvenile and ocular) are inherited as autosomal recessive traits, which means that there is a 25% recurrence risk to any couple who have had an affected child. The disease " breeds true" such that parents of a child with the juvenile variety of cystinosis will not have another child with the nephropathic form, etc.

Types

  • OMIM 219800 - Infantile nephropathic
  • OMIM 219900 - Adolescent nephropathic
  • OMIM 219750 - Adult nonnephropathic

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Cystinosis (DHEW publication no) $124.95 Keratopathy of Multiple Myeloma Masquerading as Corneal Crystals of Ocular Cystinosis : An article from: Mayo Clinic Proceedings $20.00
Celebration $6.85 Gale Encyclopedia of Medicine : Fanconi's syndrome $3.10
TV's Mort Kondracke to Speak at Cystinosis Research Foundation Reception June 2 at Four Seasons Hotel in Newport : An article from: Orange County Business Journal $10.00 The Cystinosis Foundation : An article from: The Exceptional Parent $3.00
A Parent's guide to cystinosis (NIH publication)

Pulmonary Dysfunction in Adults With Nephropathic Cystinosis - )
Objective: To characterize the pulmonary dysfunction in patients with nephropathic cystinosis after renal transplantation. Design: Cross-sectional ...
Infantile Cystinosis
A 10-year-old boy with a diagnosis of infantile cystinosis and progressive renal failure underwent bilateral nephrectomy in preparation for renal transplantation.
Crystalline histiocytosis in hereditary cystinosis
The patient was a 23-year-old white man who underwent a renal transplant at age 12 years for end-stage renal disease secondary to nephropathic cystinosis.
Orphan drug approved to treat rare kidney disorder - Cystagon, by Mylan Pharmaceuticals Inc., may be used for nephropathic cystinosis and prevent or slow
Cystagon (cysteamine bitartrate) was approved by FDA last Aug. 15 to treat children with a rare kidney disease. The disease, nephropathic cystinosis, ...
Fanconi's syndrome
Fanconi's syndrome is a set of kidney malfunctions brought about by a variety of seemingly unrelated disorders. Kidney malfunction leads to excessive urine ...
Collagen-Rich Crystalloids in a Scarred Vascularized Cornea
Collagen-rich crystalloids, also referred to as collagenous crystalloids, are uncommon findings in benign salivary gland tumors with myoepithelial differentiation ...
—Discoveries in cancer treatment—biochemical significance of the vitaletheine modulators in conventional oncology treatment protocols
Introduction An article in the Journal of Clinical Oncology reported a study revealing that, as cancer incidence rates increase, oncologists have become increasingly aware of their patient's use
Laboratory evaluation of proteinuria
Along with hematuria, proteinuria is the most common abnormality detected by urinalysis and is a hallmark of a number of renal diseases. However, protein ...

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