[Allgrove syndrome in the mainland of China: clinical report and mutation analysis].

[triple a syndrome]

Allgrove syndrome is a rare autosomal recessive disorder characterized by the triad of adrenal insufficiency , achalasia and alacrima and many cases have multi-systems disorder : endocrine , gastrointestinal tract , eyes and nervous system . This syndrome is also known as achalasia -addisonianism-alacrima syndrome or triple A syndrome . Allgrove syndrome is now known to be caused by mutations of AAAS gene encoding the aladin protein . In the present paper , we report a Chinese mainland girl with Allgrove syndrome with mutations in the AAAS gene .T he patient was a 7 -year -old girl complained of coma and dark skin ; she was treated as Addison disease for 2 years and had vomiting for 9 months before the second admission . Gene analysis was performed after extracting genomic DNA by amplification and sequencing of the specific fragments of AAA gene .The patient was confirmed to have adrenal insufficiency at the age of 5 years and 6 months . During the second hospitalization , she was found to have a remarkable brisk reflexion , bilateral optic nerve atrophy , alacrima and achalasia besides ACTH resistance . The girl was born to consanguineous parents . Based on these findings , she was diagnosed as having Allgrove syndrome . Mutation analysis revealed a novel homozygous deletion of a single G , c .771 delG , in exon 8 of the AAAS gene . This frame shift mutation was predicted to create a premature stop codon at locus 290 , p .R 258 GfsX 33 , leading to a truncated and non-functioning aladin protein . Both the parents were heterozygous for the mutation .The clinical manifestations and AAAS gene mutations analysis confirmed the diagnosis of Allgrove syndrome . Gene analysis indicated that this syndrome is an autosomal recessive inherent disorder . ALADIN is significant for the normal cell function . When compared with reported cases , it seems that there are no remarkable relation between gene mutation loci and clinical manifestations in Allgrove syndrome .

Diseases
Validation

Diseases presenting "vomiting" symptom

22q11.2 deletion syndrome

alexander disease

alpha-thalassemia

aromatase deficiency

benign recurrent intrahepatic cholestasis

cadasil

carcinoma of the gallbladder

child syndrome

cholangiocarcinoma

congenital toxoplasmosis

cutaneous mastocytosis

dedifferentiated liposarcoma

esophageal squamous cell carcinoma

homocystinuria without methylmalonic aciduria

kallmann syndrome

locked-in syndrome

megacystis-microcolon-intestinal hypoperistalsis syndrome

neonatal adrenoleukodystrophy

primary hyperoxaluria type 1

proteus syndrome

scrub typhus

severe combined immunodeficiency

systemic capillary leak syndrome

triple a syndrome

typhoid

von hippel-lindau disease

This symptom has already been validated