nephropathic cystinosisAn 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.
Severe fluid and electrolyte disturbance, renal Fanconi syndrome, growth failure, photophobia.
Nephropathic cystinosis is due to one of several mutations of CTNS, which maps to chromosome 17p13.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.
nephropathic cystinosisAn 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.
McGraw-Hill Concise Dictionary of Modern Medicine. © 2002 by The McGraw-Hill Companies, Inc.
nephropathic cystinosisA 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.
Collins Dictionary of Medicine © Robert M. Youngson 2004, 2005