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Bangstad Syndrome

Polyendocrinopathy


Presentation

  • Presenting at birth, features of the disorder include moderately severe IUGR, microcephaly, craniosynostosis, moderately severe post uterine growth retardation, deafness, deep set eyes, cryptorchidism, truncal obesity and acanthosis nigricans, small teeth[en.wikipedia.org]
  • Synonym(s): Ataxia-diabetes-goiter-gonadal insufficiency syndrome Prevalence: Inheritance: Autosomal recessive Age of onset: Neonatal ICD-10: E31.8 OMIM: 210740 UMLS: C0342284 MeSH: C537902 GARD: 812 MedDRA: - The documents contained in this web site are presented[orpha.net]
  • This book presents the "bench to bedside" approach of our understanding of the genetic basis for endocrine disease. It is organized by endocrine grouping (e.g.[books.google.ro]
  • Leading experts from Latin America, Africa, Near and Middle East, Indian Subcontinent, Far East, Oceania and Australia present their expert insights into specific conditions, as well as progress and challenges in the development of the specialty.[books.google.com]
  • The syndrome is diagnosed when patients present at least two out of the three fundamental disorders including chronic mucocutaneous candidiasis, hypoparathyroidism, and Addison’s disease.[moh-it.pure.elsevier.com]
Increased Susceptibility to Infections
  • susceptibility to infections and, in certain conditions, an icreased rate of malignancies and autoimmune disorders.[books.google.ro]
Chronic Cough
  • Interstitial Lung Disease •Rare ,Affecting less than 5%of patients •It can lead to chronic respiratory failure •Chronic cough, dyspnea, thoracic pain & recurrent LRTI •Lung bx severe peribronchiolar lymphoid infiltrate •Two autoantibodies :KCNRG, BPIFB1[slideshare.net]
Salt Craving
  • Addison’s disease •Characteristic symptoms include :Fatigue, salt craving, hypotension, weight loss and an increased pigmentation of the skin and mucous membranes Kisand K, Peterson P. Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy.[slideshare.net]
Steatorrhea
  • This was a 12-year-old boy who had steatorrhea for 10 years, with consistently normal plasma calcium levels. In most patients who had steatorrhea, it appeared as the initial manifestation.[nejm.org]
Small Teeth
  • Presenting at birth, features of the disorder include moderately severe IUGR, microcephaly, craniosynostosis, moderately severe post uterine growth retardation, deafness, deep set eyes, cryptorchidism, truncal obesity and acanthosis nigricans, small teeth[en.wikipedia.org]
  • teeth, prognathism, dislocated radial heads without generalized skeletal dysplasia, however, tall vertebrae, moderate mental retardation, hypothyroidism, insulin resistance, hypoparathyroidism.[the-medical-dictionary.com]
Short Arm
  • This process is due to mutations in the FOXP3 gene, located on the short arm of chromosome X (Xp11.23). This gene encodes the protein "P3 forkhead" (FOXP3), which is a transcription factor.[ivami.com]
Retinal Pigmentation
  • Similarly, in patients with retinopathy , peripheral pigmentary changes are noted in all cases, yet with heterogeneous severity, ranging from isolated patchy atrophy of the retinal pigment epithelium to a retinitis pigmentosa-like fundus.[journals.lww.com]
  • Other Manifestations •Scleroderma •Metaphyseal osteodysplasia •Amyotrophic lateral sclerosis •Retinal pigment degeneration •Celiac disease Kisand K, Peterson P. Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy.[slideshare.net]
  • Pigment Abnormalities RAHMAN SYNDROME Raine Syndrome Rajab Syndrome Rambaud Galian Syndrome Ramon Syndrome Ramos Arroyo Clark Syndrome Rapp-Hodgkin syndrome Rasmussen Johnsen Thomsen Syndrome Ray Peterson Scott Syndrome Reardon Hall Slaney syndrome Reardon[rgd.mcw.edu]
Hearing Impairment
  • hearing impairment Hearing impairment Aplasia/Hypoplasia of the pancreas Type 1 fibers relatively smaller than type 2 fibers If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like[mendelian.co]
Beaked Nose
  • The most common symptoms of this syndrome would be short stature, goiter, diabetes, ataxia, deafness, small head, mental retardation, beaked nose, clubfoot, undescended testes, premature fusion of skull, hypothyroidism, delayed puberty, narrow face, prominent[symptoms.in]
  • nose Beaklike protrusion Hooked nose Polly beak nasal deformity [ more ] 0000444 Deeply set eye Deep set eye Deep-set eyes Sunken eye [ more ] 0000490 Deviation of finger Atypical position of finger Finger pointing in a different direction than usual[rarediseases.info.nih.gov]

Workup

  • Some adult autoimmune enteropathy cases have been discovered in the workup of patients thought to have celiac disease but who do not respond to removal of gluten from the diet Autoimmune Enteropathy Common Variable Immunodeficiency – GI Involvement Numerous[surgpathcriteria.stanford.edu]
  • Diagnostic workup of paediatric patients with inflammatory bowel disease in Europe: results of a 5-year audit of EUROKIDS registry. Journal of Pediatric Gastroenterology and Nutrition 2012;54:374-380.[ous-research.no]
Staphylococcus Aureus
  • aureus infection Wiskott-Aldrich syndrome (bleeding disorder, low platelet count) Zinc deficiency Clinical and molecular features of the immunodysregulation, polyendocrinopathy , enteropathy, X-linked (IPEX) syndrome.[medical-dictionary.thefreedictionary.com]

Treatment

  • The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
  • New research is underway to determine a more effective treatment for IPEX patients.[checkorphan.org]
  • Lastly, always keep in touch with your physician as you may always need help on medications and treatment patterns. Although there isn’t any permanent treatment, the patient will feel better with regular treatments.[symptoms.in]
  • Significant updates on bariatric surgery, Barrett's esophagus, endoscopic ultrasound, endosonography, treatment of liver disease, and much more keep you current on the latest advances.[books.google.com]
  • Since the publication of the first edition, a flurry of new disease entities has been defined and new treatment regimens have been introduced, the most spectacular being successful treatment by gene therapy for two genotypes of combined immunodeficiency[books.google.ro]

Prognosis

  • Diagnosis - Bangstad syndrome Prognosis - Bangstad syndrome Not supplied. Treatment - Bangstad syndrome Not supplied. Resources - Bangstad syndrome[checkorphan.org]
  • The prognosis (outlook) depends on whether the critical hormone deficiencies are remedied and especially whether the infections can be successfully controlled.[medicinenet.com]
  • Read Abstract Author Information Authors Article Metrics Metrics The ocular manifestations in autoimmune polyendocrinopathy syndrome type 1 (APS1) are frequent and have a poor prognosis.[journals.lww.com]

Etiology

  • Falorni A et. al. (2004) Italian addison network study: update of diagnostic criteria for the etiological classification of primary adrenal insufficiency. [ ] 54. Eisenbarth GS et. al. (2004) Autoimmune polyendocrine syndromes. [ ] 55.[moldiag.com]
  • The incidence and etiology of HUS in children in Norway has not previously been described.[bmcinfectdis.biomedcentral.com]
  • @inproceedings{Jenssen2014IncidenceAE, title {Incidence and etiology of hemolytic-uremic syndrome in children in Norway, 1999–2008 – a retrospective study of hospital records to assess the sensitivity of surveillance}, author {Gaute Reier Jenssen and[semanticscholar.org]
  • Due to the clinical signs of DI and brain MRI findings, hypophysitis was suspected and further etiological investigations were scheduled. Serum calcium, angiotensin-converting enzyme, lysozyme, antinuclear antibody (ANA) and IgG4 levels were normal.[edmcasereports.com]
  • Incidence and etiology of hemolytic-uremic syndrome in children in Norway, 1999–2008 – a retrospective study of hospital records to assess the sensitivity of surveillance .[cambridge.org]

Epidemiology

  • O’Dwyer Patrick McElduff Centre for Clinical Epidemiology and Biostatistics, University of Newcastle, Newcastle, Australia Pärt Peterson Institute of Medical Technology, University of Tampere, Tampere Jaakko Perheentupa The Hospital for Children and Adolescents[mattioli1885journals.com]
  • Training (EPIET), European Centre for Disease Prevention and Control (ECDC), Stockholm, Sweden 2 Gastrointestinal, zoonosis and tropical diseases unit, Department of infectious diseases epidemiology, Robert Koch Institute, Berlin, Germany 3 These authors[eurosurveillance.org]
  • ISSN: 0950-2688 EISSN: 1469-4409 URL: /core/journals/epidemiology-and-infection[cambridge.org]
  • HUS and STEC infections are under epidemiological surveillance in the EU.[bmcinfectdis.biomedcentral.com]
  • Outlines •Introduction •Epidemiology •Pathogenesis •Clinical Manifestations •Laboratory Evaluation •Diagnosis •Management •Prognosis 3.[slideshare.net]
Sex distribution
Age distribution

Pathophysiology

  • A generalized cell membrane defect was suggested to be the pathophysiological abnormality in these patients. The mode of inheritance was thought to be autosomal recessive. There have been no further descriptions in the literature since 1989.[orpha.net]
  • Symptoms - Bangstad syndrome Causes - Bangstad syndrome A generalized cell membrane defect was suggested to be the pathophysiological abnormality in these patients. The mode of inheritance is thought to be autosomal recessive.[checkorphan.org]

Prevention

  • Prevention - Bangstad syndrome Not supplied. Diagnosis - Bangstad syndrome Prognosis - Bangstad syndrome Not supplied. Treatment - Bangstad syndrome Not supplied. Resources - Bangstad syndrome[checkorphan.org]
  • This protein is essential for coding and normal function of certain immune cells called regulatory T cells, which play an important role in the prevention of autoimmunity. Foxp3 is primarily in the thymus, where regulatory T cells are encoded.[ivami.com]
  • Laura Espinosa 5, Josep Jansa 5, Gaia Scavia 9, Alexandru Rafila 7,10, Amalia Serban 11, Adriana Pistol 4 View Affiliations Hide Affiliations Affiliations: 1 European Programme for Intervention Epidemiology Training (EPIET), European Centre for Disease Prevention[eurosurveillance.org]
  • Improving results of renal replacement regimes now incorporating pancreatic islet transplants are able to delay and prevent end-organ damage in diabetic individuals.[books.google.de]

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