Results 141 to 150 of about 1,618 (169)

Cortical atrophy and cognitive performance in infantile nephropathic cystinosis

Pediatric Neurology, 1990
A group of children and adolescents with infantile nephropathic cystinosis underwent cognitive testing and were examined for cortical atrophy using magnetic resonance imaging or computed tomography. Ten of 11 patients demonstrated cortical atrophy. A consistent pattern of lower cognitive performance was found in patients with greater atrophy; however ...
S L, Nichols, G A, Press, J A, Schneider, D A, Trauner   +3 more
openaire   +2 more sources

Therapeutic Problems and Pregnancy in a Patient With Infantile Nephropathic Cystinosis: A Case Report.

Transplantation Proceedings, 2019
Cystinosis is a rare genetic disorder characterized by the abnormal accumulation of cystine in the lysosomes of various tissues and organs leading to their dysfunction. The most common type is the infantile nephropathic cystinosis which without treatment leads to renal failure and before the introduction of cysteamine was the cause of death before ...
K. Kuczborska, J. Gozdowska, D. Lewandowska, R. Grenda, Z. Gałązka, S. Nazarewski, M. Durlik   +6 more
semanticscholar   +3 more sources

PSYCHOSOCIAL AND INTELLECTUAL DEVELOPMENT IN 12 PATIENTS WITH INFANTILE NEPHROPATHIC CYSTINOSIS

Acta Paediatrica, 1982
ABSTRACT. The psychosocial and intellectual development of 12 children with infantile nephropathic cystinosis was investigated longitudinally by use of biographical data, long‐term behavioral observations and psychological assessment. Of the 12 patients, eleven suffered terminal renal failure and 7 of these were followed up after renal transplantation.
Georg Wolff, Jochen H. H. Ehrich, Gisela Offner, J. Brodehl   +3 more
semanticscholar   +3 more sources

Long-Term Treatment of Infantile Nephropathic Cystinosis with Cysteamine

New England Journal of Medicine, 1985
CYSTINOSIS is a rare autosomal recessive metabolic disorder of children and adults, characterized biochemically by intracellular accumulation of free, nonprotein cystine crystals in the reticuloend...
V A, da Silva, R P, Zurbrügg, P, Lavanchy, A, Blumberg, H, Suter, S R, Wyss, C M, Lüthy, O H, Oetliker   +7 more
openaire   +2 more sources

Cholestatic liver disease in long‐term infantile nephropathic cystinosis

Journal of Gastroenterology and Hepatology, 2008
AbstractBackground:  Cystinosis is a metabolic disease characterized by accumulation of cystine in different organs and tissues, leading to potentially life‐threatening organ dysfunction. Infantile cystinosis typically leads to end‐stage renal disease, necessitating renal replacement therapy.
Tom, Cornelis, Kathleen, Claes, Pieter, Gillard, Els, Nijs, Tania, Roskams, Rita, Lombaerts, Frederik, Nevens, David, Cassiman   +7 more
openaire   +2 more sources

Infantile nephropathic cystinosis presenting as incomplete fanconi syndrome and refractory rickets

The Indian Journal of Pediatrics, 1989
Hernia around the umbilicus is common in this part of the world. Most are supraumbilical hernias and are usually symptomlcss. In a previous study it was found that most parents would not want surgical repair. Cosmetic desire is most frequcnt indication for surgery in the uncomplicated hernias.
V S, Rajadurai, P, Shanbag, M S, Seshadri, U, Khanduri, T A, Alexander, M A, Jadhav   +5 more
openaire   +2 more sources

Infantile Nephropathic Cystinosis: Diagnosis and Treatment of a Systemic Disease

2021
Portuguese Journal of Pediatrics, Vol. 52 No. 4 (2021)
Urbano, Filipa, Salgado, Catarina, Leal, Inês, Vilarinho, Laura, Simão, Carla   +4 more
openaire   +1 more source

Visuomotor Performance in Children with Infantile Nephropathy Cystinosis

Perceptual and Motor Skills, 1996
Infantile nephropathy cystinosis is a genetic metabolic disorder in which the amino acid cystine accumulates in various organs, including the kidney, cornea, thyroid, and brain. Despite normal intellect, individuals with cystinosis may have specific impairments in the processing of visual information.
K M, Scarvie, A O, Ballantyne, D A, Trauner   +2 more
openaire   +2 more sources

Early-onset chronic renal failure as a presentation of infantile nephropathic cystinosis

Pediatric Nephrology, 1995
We report an 18-month-old girl who presented in chronic renal failure after an illness characterised by protracted diarrhoea, poor weight gain and anaemia. There were no symptoms and signs suggestive of a renal Fanconi syndrome, but a diagnosis of nephropathic cystinosis was suggested by renal biopsy and confirmed by an elevated leucocyte cystine ...
W G, van't Hoff, S E, Ledermann, M, Waldron, R S, Trompeter   +3 more
openaire   +2 more sources

Age-Related Prevalence of Anterior Segment Complications in Patients With Infantile Nephropathic Cystinosis

Cornea, 2002
As a result of successful renal transplantation, patients with nephropathic cystinosis are now living into adulthood. As these patients age, anterior segment ocular complications, other than deposition of corneal crystals, become more evident. With our experience with 172 patients followed up at the National Institutes of Health between 1976 and 2000 ...
Ekaterini T, Tsilou, Benjamin I, Rubin, George F, Reed, Fumino, Iwata, William, Gahl, Muriel I, Kaiser-Kupfer   +5 more
openaire   +2 more sources