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Alströmsyndrome. Potential changes detected in the ... · Alströmsyndrome. Potential changes...
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Alström syndrome. Potential changes detected in the examination of the abdomen and the retroperitoneal space using computed tomography and magnetic resonance
Michał M. Skoczylas1, Nádia Marquette de Sousa2, Marcin Sawicki1, Anna Walecka1
1 Pomeranian Medical University in Szczecin, Poland, 2 Universidade do Vale do Sapucaí – UNIVAS (Sapucaí Valley University), Pouso Alegre, Brazil
Key wordsAlström syndrome, symptomatology, computed tomography,magnetic resonance imaging, rare disease
ConclusionsDue to the multiplicity of disorders in the course of this syndrome,the choice of technique and detailed examination procedure mustbe dependent on clinical symptoms. In the absence of developedmodels of diagnostic procedures, which is due to the low incidenceof Alström syndrome, it is worth considering the use of proceduresknown from diagnosing of the similar disorders, e.g. visualization ofkidney fibrosis by long diffusion tensor imaging MRI with spin-echosequence known for diabetic nephropathy.
Objective
Alström syndrome it is characterized by numerous disorders affecting many organs, which
causes difficulties in the diagnostic and therapeutic process. Added to this is the fact that this
very rare disease entity is not commonly known to medical doctors and there is a shortage of
diagnostic methods standardized for this diagnosis.
Methods
The study has a form of review of literature on the topic of morphological changes
in abdomen and retroperitoneal space in a course of Alström syndrome.
Results
The results of the review of the literature document that hepatomegaly, chronic active hepatitis, non-alcoholic fatty liver disease, liver cirrhosis,
hepatocellular adenoma, cholelithiasis and cholecystitis, acute and chronic pancreatitis, chronic nephritis, narrowing of the ureteropelvic junctions,
deformities of the calyceal system and fibrosis of the liver, the kidney and the adipose tissue and also portal hypertension (including splenomegaly and
esophageal varices) are the potential changes that can be detected in the examination of the abdomen and the retroperitoneal space using computed
tomography or magnetic resonance. Moreover scoliosis, present in the clinical picture of Alström syndrome, can potentially modify the position of the
internal organs.
The diagnostics for the qualification for liver and kidney transplantation requires a separated study.
Pomeranian Medical University in Szczecin