Literature DB >> 12210348

Wolcott-Rallison syndrome in two siblings with isolated central hypothyroidism.

Bassam Bin-Abbas1, Abdulmohsen Al-Mulhim, Abdullah Al-Ashwal.   

Abstract

Two sibs with an infantile onset of hyperglycemia, recurrent hepatitis, renal insufficiency, developmental delay, and skeletal epiphyseal dysplasia are described. Clinical presentation and radiological features are suggestive of Wolcott-Rallison syndrome, a rare autosomal recessive disease. In both of our cases we found evidence of central hypothyroidism, which appears to be an associated feature of this syndrome. Hypothyroidism should be suspected and screened for in all cases of Wolcott-Rallison syndrome. Copyright 2002 Wiley-Liss, Inc.

Entities:  

Mesh:

Year:  2002        PMID: 12210348     DOI: 10.1002/ajmg.10495

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  20 in total

Review 1.  The endoplasmic reticulum stress response and diabetic kidney disease.

Authors:  Robyn Cunard; Kumar Sharma
Journal:  Am J Physiol Renal Physiol       Date:  2011-02-23

Review 2.  Monogenic syndromes of abnormal glucose homeostasis: clinical review and relevance to the understanding of the pathology of insulin resistance and beta cell failure.

Authors:  J R Porter; T G Barrett
Journal:  J Med Genet       Date:  2005-03-16       Impact factor: 6.318

3.  Deficient degradation of homotrimeric type I collagen, α1(I)3 glomerulopathy in oim mice.

Authors:  Anna M Roberts-Pilgrim; Elena Makareeva; Matthew H Myles; Cynthia L Besch-Williford; Amanda C Brodeur; Andrew L Walker; Sergey Leikin; Craig L Franklin; Charlotte L Phillips
Journal:  Mol Genet Metab       Date:  2011-07-31       Impact factor: 4.797

Review 4.  Acquired non-type 1 diabetes in childhood: subtypes, diagnosis, and management.

Authors:  J R Porter; T G Barrett
Journal:  Arch Dis Child       Date:  2004-12       Impact factor: 3.791

Review 5.  Wolcott-Rallison syndrome.

Authors:  Cécile Julier; Marc Nicolino
Journal:  Orphanet J Rare Dis       Date:  2010-11-04       Impact factor: 4.123

6.  eIF2B-related disorders: antenatal onset and involvement of multiple organs.

Authors:  Marjo S van der Knaap; Carola G M van Berkel; Jochen Herms; Rudy van Coster; Martina Baethmann; Sakkubai Naidu; Eugen Boltshauser; Michèl A A P Willemsen; Barbara Plecko; Georg F Hoffmann; Christopher G Proud; Gert C Scheper; Jan C Pronk
Journal:  Am J Hum Genet       Date:  2003-10-17       Impact factor: 11.025

7.  Primary hypothyroidism and nipple hypoplasia in a girl with Wolcott-Rallison syndrome.

Authors:  Anita Spehar Uroić; Vjosa Mulliqi Kotori; Nataša Rojnić Putarek; Vesna Kušec; Miroslav Dumić
Journal:  Eur J Pediatr       Date:  2013-11-06       Impact factor: 3.183

8.  Phosphorylation of the alpha subunit of eukaryotic initiation factor 2 is required for activation of NF-kappaB in response to diverse cellular stresses.

Authors:  Hao-Yuan Jiang; Sheree A Wek; Barbara C McGrath; Donalyn Scheuner; Randal J Kaufman; Douglas R Cavener; Ronald C Wek
Journal:  Mol Cell Biol       Date:  2003-08       Impact factor: 4.272

9.  Primary hypothyroidism: an unusual manifestation of Wolcott-Rallison syndrome.

Authors:  Betül Ersoy; Bayram Özhan; Seniha Kiremitçi; Oscar Rubio-Cabezas; Sian Ellard
Journal:  Eur J Pediatr       Date:  2013-08-11       Impact factor: 3.183

10.  Monogenic and syndromic diabetes due to endoplasmic reticulum stress.

Authors:  Stephen I Stone; Damien Abreu; Janet B McGill; Fumihiko Urano
Journal:  J Diabetes Complications       Date:  2020-05-08       Impact factor: 2.852

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.