ABSTRACT
Triple A syndrome is a rare genetic disorder caused by mutations in the achalasia-addisonianism-alacrima syndrome (AAAS) gene which encodes a tryptophan aspartic acid (WD) repeat-containing protein named alacrima-achalasia-adrenal insufficiency neurologic disorder (ALADIN). Northern blot analysis shows that the 2.1 kb AAAS mRNA is expressed in various tissues with stronger expression in testis and pancreas. We show that human ALADIN is a protein with an apparent molecular weight of 60 kDa, and expressed in the adrenal gland, pituitary gland and pancreas. Furthermore, biochemical analysis using anti-ALADIN antibody supports the previous finding of the localization of ALADIN in the nuclear membrane. The mutations S544G and S544X show that alteration of S544 residue affects correct targeting of ALADIN to the nuclear membrane.
Subject(s)
Humans , Adrenal Insufficiency/genetics , Antibodies/immunology , Cloning, Molecular , DNA, Complementary/genetics , Esophageal Achalasia/genetics , Gene Expression Profiling , HeLa Cells , Lacrimal Apparatus Diseases/genetics , Mutagenesis, Site-Directed , Nerve Tissue Proteins/analysis , Nuclear Pore/chemistry , Nuclear Pore Complex Proteins/analysis , RNA, Messenger/analysis , Syndrome , Tissue DistributionSubject(s)
Humans , Esophagus/physiopathology , Esophageal Motility Disorders/etiology , Esophageal Motility Disorders/physiopathology , Esophageal Achalasia/physiopathology , Esophageal Achalasia/genetics , Esophageal Achalasia/parasitology , Latin America , Chest Pain/etiology , Chest Pain/physiopathology , Chagas Disease/complications , Esophageal Spasm, Diffuse/complications , Esophageal Spasm, Diffuse/pathologyABSTRACT
Familial occurrence of achalasia cardia is rare. Most associations are among siblings or in monozygotic twins. Parent-child association is even rarer and only six such instances have been reported till date. We report a 29-year-old man with achalasia cardia and his mother who had the same illness two and half years later. Both of them were successfully treated with balloon dilatation.
Subject(s)
Adult , /methods , Esophageal Achalasia/genetics , Female , Genetic Predisposition to Disease/genetics , Humans , Male , Treatment OutcomeABSTRACT
Primary adrenal insufficiency is an uncommon disease which has worldwide distribution. The commonest cause in underdeveloped countries is tuberculosis followed by autoimmune destruction of the adrenal gland. We report a case of a 15 years boy who had congenital adrenal insufficiency associated with achalasia of the cardia and deficient tear secretion.
Subject(s)
Addison Disease/genetics , Adolescent , Adrenal Insufficiency/diagnosis , Chromosomes, Human, Pair 12 , Esophageal Achalasia/genetics , Humans , Lacrimal Apparatus Diseases/genetics , Male , Pigmentation , Syndrome , TongueABSTRACT
We report two siblings with Allgrove's syndrome and extrapyramidal features. Though various neurological abnormalities have been described in this disorder, we report the first patient of Allgrove's syndrome associated with dystonia and chorea.
Subject(s)
Adolescent , Adrenal Insufficiency/genetics , Basal Ganglia Diseases/genetics , Chorea/genetics , Dystonia/genetics , Esophageal Achalasia/genetics , Female , Humans , Lacrimal Apparatus Diseases/genetics , SyndromeABSTRACT
La presencia de acalasia esofágica en varios miembros de una misma familia de la misma generación, es un evento bastante raro. Su eventual asociación con algunas alteraciones metabólicas como deficiencia de glucocorticoides, o insensibilidad a la HACT, así como algunos defectos congénitos neuromusculares, microcefalia alacrimia, etc., sugiere que en algunos casos de acalasia esofágica, ésta obedezca a un patrón de herencia mendeliano. La alta frecuencia de consanguinidad entre los padres de estos pacientes, sugiere la posibilidad de una autosómica recesiva. Se reportan tres hermanas con acalasia esofágica, cuyos padres son consanguíneos, diagnosticados y operados en el Hospital de Gineco-pediatría del Instituto Mexicano del Seguro Social, en la Ciudad de León, Gto. Se hace algunas observaciones en el fenotipo de dos de nuestros pacientes. Se comenta el tratamiento quirúrgico efectuado y finalmente la oportunidad de haber hecho un seguimiento a largo plazo (12 años)
Subject(s)
Humans , Male , Child , Adolescent , Esophageal Achalasia/surgery , Esophageal Achalasia/genetics , Esophagostomy/rehabilitation , Esophagostomy/statistics & numerical data , Gastrostomy/rehabilitation , Gastrostomy/statistics & numerical dataABSTRACT
La acalasia primaria del esófago es una enfermedad de etiología desconocida, cuya presencia en dos o más miembros de una familia es muy rara. En el presente trabajo se presentan dos hermanas adultas con dicho padecimiento