Literature DB >> 78049

Familial glucocorticoid deficiency with achalasia of the cardia and deficient tear production.

J Allgrove, G S Clayden, D B Grant, J C Macaulay.   

Abstract

Isolated glucocorticoid failure associated with achalasia of the cardia is described in two pairs of siblings in separate families. Defective tear production is also present in three of the patients, and one shows other signs of autonomic dysfunction. Two other families with adrenal insufficiency and achalasia are known. This unusual association probably represents a familial disorder of as yet unknown aetiology.

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Year:  1978        PMID: 78049     DOI: 10.1016/s0140-6736(78)91268-0

Source DB:  PubMed          Journal:  Lancet        ISSN: 0140-6736            Impact factor:   79.321


  104 in total

1.  Familial glucocorticoid deficiency syndromes.

Authors:  Frederich C Luft
Journal:  J Mol Med (Berl)       Date:  2002-07       Impact factor: 4.599

2.  Triple-a syndrome: a rare etiology of adult achalasia.

Authors:  Sabine Roman; Marc Nicolino; François Mion; Anna Tullio-Pelet; Denis Péré-Vergé; Jean-Christophe Souquet
Journal:  Dig Dis Sci       Date:  2005-03       Impact factor: 3.199

3.  Achalasia cardia presenting with Marasmic Kwashiorkor.

Authors:  Vaishali More; Preeti Shanbag; Kailash Jialdasani
Journal:  Indian J Pediatr       Date:  2006-05       Impact factor: 1.967

4.  Unusual presentation of triple A syndrome mimicking Sjögren's syndrome.

Authors:  Ahmet Mesut Onat; Yavuz Pehlivan; Hakan Buyukhatipoglu; Yusuf Ziya Igci; Yusuf Ziya; Seydi Okumus; Cemile Arikan; Sibel Oguzkan
Journal:  Clin Rheumatol       Date:  2006-12-19       Impact factor: 2.980

5.  Achalasia in a patient with adult-onset Tay-Sachs disease.

Authors:  Jeffrey W Nathanson; Charles S Winans
Journal:  Dig Dis Sci       Date:  2006-01       Impact factor: 3.199

Review 6.  Achalasia--a disease of unknown cause that is often diagnosed too late.

Authors:  Ines Gockel; Michaela Müller; Johannes Schumacher
Journal:  Dtsch Arztebl Int       Date:  2012-03-23       Impact factor: 5.594

7.  Achalasia and thyroid disease.

Authors:  Mohammad Hassan Emami; Mostafa Raisi; Jaleh Amini; Hamed Daghaghzadeh
Journal:  World J Gastroenterol       Date:  2007-01-28       Impact factor: 5.742

8.  New ophthalmic features in a family with triple A syndrome.

Authors:  Marilita M Moschos; Ioannis Margetis; Katrin Koehler; Zisis Gatzioufas; Angela Huebner
Journal:  Int Ophthalmol       Date:  2011-05-28       Impact factor: 2.031

9.  The nuclear pore complex protein ALADIN is mislocalized in triple A syndrome.

Authors:  Janet M Cronshaw; Michael J Matunis
Journal:  Proc Natl Acad Sci U S A       Date:  2003-05-02       Impact factor: 11.205

10.  Familial adrenocorticotropin unresponsiveness associated with alacrima and achalasia: biochemical and molecular studies in two siblings with clinical heterogeneity.

Authors:  C Heinrichs; C Tsigos; J Deschepper; R Drews; R Collu; C Dugardeyn; P Goyens; G E Ghanem; D Bosson; G P Chrousos
Journal:  Eur J Pediatr       Date:  1995-03       Impact factor: 3.183

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