منابع مشابه
Bone Complications of Cystinosis.
Cystinosis is recognized as a systemic disease because of mutations in the gene encoding cystinosin, the lysosomal cystine exporter. In the nephropathic form that affects infants and young children, the kidney Fanconi syndrome leads to metabolic acidosis, hypophosphatemia attributable to phosphaturia, and reduced synthesis of the active metabolite of vitamin D, 1,25-dihydroxyvitamin D3, also kn...
متن کاملEndocrine Complications of Cystinosis.
Thyroid dysfunction chronologically follows kidney dysfunction and develops in about 50% of untreated children by 5-10 years of age. In 1970, Chan et al were the first to describe primary hypothyroidism in cystinosis and performed a histologic examination of the thyroid gland showing cystine crystal accumulation and fibrosis. Biochemically, hypothyroidism usually manifests with elevated thyroid...
متن کاملNeurocognitive Complications of Cystinosis.
Until effective treatments for the renal complications of nephropathic cystinosis became available, cystinosis was not thought to affect the brain. Any neurologic problems reported in patients with cystinosis were attributed to the chronic renal disease and associated metabolic derangements, or to treatments such as steroids and other immunosuppressant agents. Since the successful advent of ren...
متن کاملOcular Complications of Infantile Nephropathic Cystinosis.
Ocular complications are among the most common cause of discomfort and disability in patients with cystinosis, affecting virtually all individuals with nephropathic cystinosis if left untreated. Photophobia results from accumulation of cystine crystals within the corneal tissue. Compliance with recommended therapy can reverse this change, resulting in resolution of symptoms. Other ocular struct...
متن کاملIntroduction to "Extra-Renal Complications of Cystinosis".
Cystinosis is one of the earliest described inborn errors of metabolism, first documented in 1903. 1 It is inherited as an autosomal recessive condition and presents as a broader phenotype than merely the initial renal Fanconi syndrome, one that affects different organ systems as the patient ages. Understanding of this pan-tissue and pan-organ disease has evolved over the past century, and is t...
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ژورنال
عنوان ژورنال: Pediatric Neurology Briefs
سال: 1989
ISSN: 2166-6482,1043-3155
DOI: 10.15844/pedneurbriefs-3-5-3