nephropathic cystinosis

An autosomal recessive disorder characterised by generalised proximal renal tubular dysfunction and progressive renal damage, resulting in end-stage renal disease at 10 years of age due to intracellular accumulation of cystine in the kidney, spleen, liver, lymph node, cornea and thyroid gland, leading to multiorgan failure.

Clinical findings
Severe fluid and electrolyte disturbance, renal Fanconi syndrome, growth failure, photophobia.
Molecular pathology
Nephropathic cystinosis is due to one of several mutations of CTNS, which maps to chromosome 17p13.

nephropathic cystinosis

An AR lysosomal storage disease characterized by early-onset renal tubular Fanconi's syndrome, progressive photophobia, and renal failure severe enough to require either hemodialysis or transplantation by age 10, caused by defective trans-lysosomal membrane transport of cystine, resulting in tissue deposition of cystine with corneal erosions, DM, neurologic deterioration Clinical Dehydration, acidosis, vomiting, electrolyte imbalance, hypophosphatemic rickets, FTT Treatment β-mercaptoethylamine–aminothiol cysteamine to deplete intracellular stores and dissolve tissue crystals, which improves growth and delays renal failure. See Salla disease.

nephropathic cystinosis

A rare autosomal recessive LYSOSOMAL STORAGE DISEASE in which cystine crystals are deposited widely throughout the body. Kidney damage may be severe with passage of large quantities of urine containing amino acids and glucose. There is acidosis of the blood with low phosphate and potassium levels and vitamin D-resistant rickets.

单词	nephropathic cystinosis
释义	nephropathic cystinosis nephropathic cystinosis An autosomal recessive disorder characterised by generalised proximal renal tubular dysfunction and progressive renal damage, resulting in end-stage renal disease at 10 years of age due to intracellular accumulation of cystine in the kidney, spleen, liver, lymph node, cornea and thyroid gland, leading to multiorgan failure. Clinical findings Severe fluid and electrolyte disturbance, renal Fanconi syndrome, growth failure, photophobia. Molecular pathology Nephropathic cystinosis is due to one of several mutations of CTNS, which maps to chromosome 17p13. nephropathic cystinosis An AR lysosomal storage disease characterized by early-onset renal tubular Fanconi's syndrome, progressive photophobia, and renal failure severe enough to require either hemodialysis or transplantation by age 10, caused by defective trans-lysosomal membrane transport of cystine, resulting in tissue deposition of cystine with corneal erosions, DM, neurologic deterioration Clinical Dehydration, acidosis, vomiting, electrolyte imbalance, hypophosphatemic rickets, FTT Treatment β-mercaptoethylamine–aminothiol cysteamine to deplete intracellular stores and dissolve tissue crystals, which improves growth and delays renal failure. See Salla disease. nephropathic cystinosis A rare autosomal recessive LYSOSOMAL STORAGE DISEASE in which cystine crystals are deposited widely throughout the body. Kidney damage may be severe with passage of large quantities of urine containing amino acids and glucose. There is acidosis of the blood with low phosphate and potassium levels and vitamin D-resistant rickets.
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