Abstract. Allgrove’s or “4 A” syndrome is a rare autosomal recessive condition with alacrima, achalasia, autonomic disturbance, and ACTH insensitivity among. Triple-A syndrome or AAA syndrome, also known as achalasia-addisonianism- alacrima syndrome or Allgrove syndrome, is a rare autosomal recessive. Disease summary: Allgrove Syndrome (AS) is rare autosomal recessive disorder characterised by achalasia cardia, alacrimia and adrenal insufficiency, which is.
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Triple-A syndrome – Wikipedia
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Triple A syndrome is a very rare multisystem disease characterized by adrenal insufficiency with isolated glucocorticoid deficiency, achalasia, alacrima, autonomic dysfunction and syndroem. Prevalence is unknown but less than cases have been published since the first description in The onset of Triple A syndrome varies between infancy and adulthood.
When presenting in early childhood, alacrima and, possibly, achalasia are the indicative signs; in childhood and adolescence, onset is characterized by achalasia and adrenal insufficiency; while in adulthood, presentation is predominantly neurological with autonomous and polyneuropathic involvement. Alacrima, when present, is the first clinical sign, manifesting in the first months of life, but achalasia of the cardia, leading to dysphagia, is usually the first relevant symptom leading to diagnosis.
Allgrove syndrome: when a recognisable paediatric disorder occurs in adulthood
Adrenal insufficiency may cause hypoglycemia and seizures. These three cardinal signs may not all be present, or be associated with autonomic dysfunction and other neurological features, leading to the ”double A” or ”quaternary A” denomination, respectively. Neurological manifestations are diverse: Diagnosis is based on clinical examination and adrenal function testing.
It can be confirmed by molecular testing. Given that the presence of 2 among allgroce 3 main clinical signs achalasia, alacrima or adrenal insufficiency is pathognomonic, differential diagnosis can be considered when only one clinical sign is observed, for example at the onset of the disease.
Orphanet: Triple A syndrome Allgrove syndrome
Differential diagnosis thus includes other causes of adrenal insufficiency, achalasia or alacrima such as frequent forms of syndfome adrenal hyperplasia easily excluded with dosage of adrenal hormones precursorsand rare peripheral forms of congenital adrenal insufficiency or adrenoleukodystrophy, which might be associated with syyndrome features. Treatment for Triple A syndrome includes hydrocortisone substitutive therapy, esophageal dilatation or myotomy of the lower esophageal sphincter and artificial tear drops.
Management of neurological features is symptomatic. If untreated, triple A syndrome may have a high morbidity and prognosis can be severe. The appropriate management of the disease ameliorates the prognosis significantly. Other search option s Alphabetical list.
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Disease definition Triple A syndrome is a very rare multisystem disease characterized by adrenal insufficiency with isolated glucocorticoid deficiency, achalasia, alacrima, autonomic dysfunction and neurodegeneration. Summary Epidemiology Prevalence is unknown but less than cases have been published sgndrome the first description in Clinical description The onset of Triple A syndrome varies between infancy and adulthood.
Diagnostic methods Diagnosis is based on clinical examination and adrenal function testing. Differential diagnosis Given that the presence of 2 among the 3 main clinical signs achalasia, alacrima or adrenal insufficiency is pathognomonic, differential diagnosis can be considered aolgrove only one clinical sign is observed, for example at the onset of the disease.
Management and treatment Treatment for Triple A syndrome includes hydrocortisone substitutive therapy, esophageal dilatation or myotomy of sydrome lower esophageal sphincter and artificial tear drops. Prognosis If untreated, triple A syndrome may have a high morbidity and prognosis can be severe.
Additional information Further information on this disease Classification s 6 Gene s 3 Clinical signs and symptoms Publications in PubMed Other website s 5.
Health care resources for this disease Expert centres Diagnostic tests 22 Patient allgrlve 35 Orphan drug s 4. Specialised Social Services Eurordis directory. The documents contained in this web site are presented for information purposes only.
The material is in no way intended to replace sndrome medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.