Chiari I Malformation in Nephropathic Cystinosis
نویسندگان
چکیده
منابع مشابه
Infantile nephropathic cystinosis.
INTRODUCTION Infantile nephropathic cystinosis (INC) is a metabolic disorder due to impaired carrier-mediated transport of cystine out of cellular lysosomes. OBJECTIVE To examine the prevalence and clinical characteristics of INC in paediatric patients with endstage renal disease (ESRD) in Serbia and give a recent statement of the disease. METHODS ESRD database of the Centre for Paediatric ...
متن کاملCorneal thickness in nephropathic cystinosis.
Cystinosis is a rare autosomal recessive metabolic disorder in which non-protein cystine accumulates within cellular lysosomes owing to a defect in lysosomal cystine transport. The pathognomonic ocular manifestation of cystinosis is the deposition of distinctive iridescent crystals in the cornea, not associated with any inflammatory response or recognised change in corneal function. We measured...
متن کاملChiari I malformation and delivery
The following recommendations have been adopted and field tested on the patients of our centers for more than 10 years. They reflect the feedback from experts in the field of Obstetrics and Anesthesia, as well as the evolution of our understanding of CMI and syringomyelia. • A trial of natural childbirth is not contraindicated in patients with CMI (untreated, or after surgical decompression) • ...
متن کاملPulmonary dysfunction in adults with nephropathic cystinosis.
OBJECTIVE To characterize the pulmonary dysfunction in patients with nephropathic cystinosis after renal transplantation. DESIGN Cross-sectional analysis of consecutive adult patients. PATIENTS Twelve adult, nephropathic cystinosis patients and 3 adult, ocular, nonnephropathic cystinosis patients admitted to the National Institutes of Health Clinical Center. RESULTS The 12 nephropathic cy...
متن کاملPituitary-testicular function in nephropathic cystinosis.
OBJECTIVE To evaluate reproductive function in patients with cystinosis and in renal transplant recipients without cystinosis. DESIGN Cross-sectional study. SETTING Clinical Center, National Institutes of Health. PATIENTS Ten male patients, 15 to 28 years old, with nephropathic cystinosis and renal allografts formed the study group; 11 renal transplant recipients who had a primary renal d...
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ژورنال
عنوان ژورنال: The Journal of Pediatrics
سال: 2015
ISSN: 0022-3476
DOI: 10.1016/j.jpeds.2015.07.038