nach oben

Skeletal Radiology

Erschienen in:

01.03.2014 | Case Report

Progressive destructive bone changes in patients with cystinosis

verfasst von: Maria Klusmann, William van’t Hoff, Fergal Monsell, Amaka C. Offiah

Erschienen in: Skeletal Radiology | Ausgabe 3/2014

Einloggen, um Zugang zu erhalten

Abstract

Nephropathic cystinosis is an autosomal recessive lysosomal storage disorder in which intracellular cystine accumulates. It is caused by mutations in the CTNS gene. Clinical manifestations include renal tubular Fanconi syndrome in the first year of life, rickets, hypokalaemia, polyuria, dehydration and acidosis, growth retardation, hypothyroidism, photophobia and renal glomerular deterioration. Late complications include myopathy, pancreatic insufficiency and retinal blindness. Skeletal manifestations described in these patients include failure to thrive, osteomalacia, rickets and short stature. This paper describes progressive bony abnormalities in three unrelated patients with nephropathic cystinosis that have not been reported previously.

Kalatzis V, Antignac C. New aspects of the pathogenesis of cystinosis. Pediatr Nephrol. 2003;18(3):207–15.PubMed

Cherqui S, Sevin C, Hamard G, Kalatzis V, Sich M, Pequignot MO, et al. Intralysosomal Cystine accumulation in Mice Lacking Cystinosin, the protein defective in Cystinosis. Mol Cell Biol. 2002;22(21):7622–32.PubMedCentralPubMedCrossRef

Ueda M, O’Brien K, Rosing DR, Ling A, Kleta R, MacAreavey D, et al. Coronary artery and other vascular calcifications in cystinosis patients after kidney transplantation. Clin J Am Soc Nephrol. 2006;1(3):555–62.PubMedCrossRef

Gahl WA. Early oral cysteamine therapy for nephropathic cystinosis. Eur J Pediatr. 2003;62(1):38–41.CrossRef

Ozkan B, Cayır A, Koşan C, Alp H. Cystinosis presenting with findings of barter syndrome. J Clin Res Pediatr Endocrinol. 2011;3(2):101–4.PubMedCentralPubMedCrossRef

Haffner D, Weinfurth A, Manz F, Schmidt H, Bremer HJ, Mehls O, et al. Long-term outcome of paediatric patients with hereditary tubular disorders. Nephron. 1999;83(3):250–60.PubMedCrossRef

Iancu TC, Lerner A, Shiloh HJ. Intestinal mucosa in nephropathic cystinosis. J Pediatr Gastroenterol Nutr. 1987;6(3):359–64.PubMedCrossRef

Antoniazzi F, Mengarda F, Lauriola S, Serra A, Zamboni G, Tatò L. Growth and renal function. Pediatr Med Chir. 1997;19(5):341–7.PubMed

Betend B, Chatelain P, David L, François R. Treatment of rickets caused by infantile cystinosis using 1 alpha-hydroxyvitamin D. Arch Fr Pediatr. 1982;39(8):615–8.PubMed

10.

Dimitrov A, Paupe V, Gueudry C, Sibarita JB, Raposo G, Vielemeyer O, et al. The gene responsible for Dyggve-Melchior-Clausen syndrome encodes a novel peripheral membrane protein dynamically associated with the Golgi apparatus. Hum Mol Genet. 2009;18(3):440–53.PubMedCrossRef

11.

Nakamura K, Kurokawat T, Nagano A, Nakamura S, Taniguchi K, Hamazaki M. Dyggve-Melchior-Clausen syndrome without mental retardation (Smith-McCort dysplasia): Morphological findings in the growth plate of the iliac crest. Am J Med Genet. 1997;72(1):11–7.PubMedCrossRef

12.

Besouw MT, Bowker R, Dutertre JP, Emma F, Gahl WA, Greco M, et al. Cysteamine toxicity in patients with cystinosis. J Pediatr. 2011;159(6):1004–11.PubMedCrossRef

13.

Clinical Trials.gov. http://clinicaltrials.gov/ct2/show/NCT00001213. Accessed 15 April 2013

14.

British National Formulary. http://www.bnf.org

Titel: Progressive destructive bone changes in patients with cystinosis
verfasst von: Maria Klusmann
William van’t Hoff
Fergal Monsell
Amaka C. Offiah
Publikationsdatum: 01.03.2014
Verlag: Springer Berlin Heidelberg
Erschienen in: Skeletal Radiology / Ausgabe 3/2014
Print ISSN: 0364-2348
Elektronische ISSN: 1432-2161
DOI: https://doi.org/10.1007/s00256-013-1735-z

Update Radiologie

Bestellen Sie unseren Fach-Newsletter und bleiben Sie gut informiert.

Newsletter bestellen

Springer Medizin

Progressive destructive bone changes in patients with cystinosis

Abstract

Neu im Fachgebiet Radiologie

Screening-Mammografie offenbart erhöhtes Herz-Kreislauf-Risiko

S3-Leitlinie zu Pankreaskrebs aktualisiert

Fünf Dinge, die im Kindernotfall besser zu unterlassen sind

„Nur wer sich gut aufgehoben fühlt, kann auch für Patientensicherheit sorgen“

Update Radiologie

Springer Medizin

Abstract

Bitte loggen Sie sich ein, um Zugang zu diesem Inhalt zu erhalten

Weitere Artikel der Ausgabe 3/2014

A mildly painful wrist mass

T2 relaxometry of the infrapatellar fat pad after arthroscopic surgery

Case–control study to estimate the performance of dual-energy computed tomography for anterior cruciate ligament tears in patients with history of knee trauma

Psoriatic onycho pachydermo periostitis (POPP)

Using the dGEMRIC technique to evaluate cartilage health in the presence of surgical hardware at 3T: comparison of inversion recovery and saturation recovery approaches

Mucopolysaccharidosis IVA (Morquio A syndrome) and VI (Maroteaux–Lamy syndrome): under-recognized and challenging to diagnose

Neu im Fachgebiet Radiologie

Screening-Mammografie offenbart erhöhtes Herz-Kreislauf-Risiko

S3-Leitlinie zu Pankreaskrebs aktualisiert

Fünf Dinge, die im Kindernotfall besser zu unterlassen sind

„Nur wer sich gut aufgehoben fühlt, kann auch für Patientensicherheit sorgen“

Update Radiologie