Results 121 to 130 of about 48,474 (154)

Academic achievement in individuals with infantile nephropathic cystinosis

American Journal of Medical Genetics, Part A, 1997
The present study examined academic skills in children and young adults with infantile nephropathic cystinosis. Cystinosis is a genetic metabolic disorder in which the amino acid cystine accumulates in various tissues and organs, including the kidney, cornea, thyroid, and brain.
Angela Ballantyne, Kathleen M Scarvie
exaly   +3 more sources

Corneal Manifestation in Patients with Infantile Nephropathic Cystinosis

Klinische Monatsblätter für Augenheilkunde, 2023
AbstractNephropathic cystinosis is a rare autosomal recessive disease caused by mutations in the CTNS gene. This causes dysfunction of cystinosin, a protein that transports cystine out of lysosomes, causing cystine crystals to accumulate in cells in most organ systems.
Franziska Kruse, Leonie Franziska Keidel, Siegfried Priglinger, Nikolaus Luft, Claudia Priglinger   +4 more
openaire   +2 more sources

Posterior Segment Involvement in Infantile Nephropathic Cystinosis – A Review

Klinische Monatsblätter für Augenheilkunde, 2023
Abstract Cystinosis is a rare lysosomal storage disease with a prevalence of 1 : 100 000 – 1 : 200 000 cases. It is caused by biallelic mutations in the CTNS gene, which encodes cystinosin, that transport cystine out of the lysosomes.
Leonie Franziska Keidel, Benedikt Schworm, Katharina Hohenfellner, Franziska Kruse, Siegfried Priglinger, Nikolaus Luft, Claudia Priglinger   +6 more
openaire   +2 more sources

Ophthalmic Manifestations and Histopathology of Infantile Nephropathic Cystinosis: Report of a Case and Review of the Literature [PDF]

Survey of Ophthalmology, 2007
Cystinosis is a rare autosomal recessive metabolic disorder characterized by the intracellular accumulation of cystine, the disulfide of the amino acid cysteine, in many organs and tissues. Infantile nephropathic cystinosis is the most severe phenotype.
Chi-Chao Chan, William A Gahl, Pamela C Sieving   +2 more
exaly   +3 more sources

Atypical manifestations of infantile-onset nephropathic cystinosis: a diagnostic challenge

CEN Case Reports, 2022
A 7-month-old male infant was referred to us for evaluation of hypercalcemia and failure to thrive. He was the second-born child to third-degree consanguineous parents with a birth weight of 3.5 kg. The index child was severely underweight. Initial laboratory investigations showed hypercalcemia (13.6 mg/dL), hypophosphatemia, hyponatremia, hypokalemia ...
Bobbity Deepthi, Sriram Krishnamurthy, Pediredla Karunakar, Gowrishankar Barathidasan, Thiagarajan Narayanasamy Rajavelu   +4 more
openaire   +2 more sources

The Molecular Basis of Dutch Infantile Nephropathic Cystinosis

Nephron, 2001
Infantile nephropathic cystinosis, an inborn error of metabolism with an autosomal recessive inheritance pattern, is characterized by lysosomal storage of the amino acid cystine due to an impaired transport of cystine out of the lysosomes. Initial clinical features consist of the renal Fanconi syndrome and crystals in the cornea.
Heil, S.G., Levtchenko, E.N., Monnens, L.A.H., Trijbels, J.M.F., Put, N.M.J. van der, Blom, H.J.   +5 more
openaire   +4 more sources

Clinical and genetic characteristics of Tunisian children with infantile nephropathic cystinosis

Pediatric Nephrology, 2022
Nephropathic cystinosis is an autosomal recessive disease caused by a mutation in the CTNS gene which encodes cystinosin, a lysosomal cystine transporter. The spectrum of mutations in the CTNS gene is not well defined in the North African population. Here, we investigated twelve patients with nephropathic cystinosis belonging to eight Tunisian families
Mariem, El Younsi, Médiha, Trabelsi, Sandra, Ben Youssef, Inès, Ouertani, Yousra, Hammi, Ahlem, Achour, Faouzi, Maazoul, Maher, Kharrat, Tahar, Gargah, Ridha, M'rad   +9 more
openaire   +2 more sources

Outcome of infantile nephropathic cystinosis depends on early intervention, not genotype: A multicenter sibling cohort study

Journal of Inherited Metabolic Disease, 2023
BACKGROUND: Infantile Nephropathic Cystinosis (INC) is an inheritable lysosomal storage disorder characterized by lysosomal cystine accumulation, progressive kidney disease and multiple extra-renal complications (ERC).
Detlef Bockenhauer, Martine T P Besouw, Koenraad R P Veys   +2 more
exaly   +1 more source

PSYCHOSOCIAL AND INTELLECTUAL DEVELOPMENT IN 12 PATIENTS WITH INFANTILE NEPHROPATHIC CYSTINOSIS

Acta Paediatrica, International Journal of Paediatrics, 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.
Gisela Offner, J Brodehl, J H H Ehrich
exaly   +3 more sources

Infantile nephropathic cystinosis: Clinical features and outcome

Asian Journal of Pediatric Nephrology, 2020
Background: Nephropathic infantile cystinosis, the most common cause of renal Fanconi syndrome, presents in early infancy with impaired growth, polyuria and polydipsia, and progresses to end stage renal disease during the first decade. Diagnosis is based on corneal examination for cystine crystals, leukocyte cystine content and genetic testing of the ...
Arvind Bagga, Sumantra Raut, Priyanka Khandelwal, Aditi Sinha, Ritu Thakur, Mamta Puraswani, Thirumurthy Velpandian, Pankaj Hari   +7 more
openaire   +1 more source