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1.
Clin Case Rep ; 11(5): e7241, 2023 May.
Artigo em Inglês | MEDLINE | ID: mdl-37143464

RESUMO

Key Clinical Message: Genetic counseling and genetic screening for hyperoxaluria should be recommended for children with urinary lithiasis for early management to avoid progression to oxalosis especially if there is a family history of lithiasis.Primary hyperoxaluria type 1 (PH1) is caused by a deficiency of the liver peroxisomal enzyme alanine-glyoxylate aminotransferase (AGT) resulting in overproduction of calcium oxalates. In its later stage, a systemic deposit of calcium oxalates is observed. We present the case of an 8-year-old girl with exceptional neurological involvement secondary to this disease.

2.
Clin Case Rep ; 10(11): e6613, 2022 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-36415710

RESUMO

Spontaneous hemothorax occurs in the absence of trauma or iatrogenic causes. Etiologies of spontaneous hemothorax in children include connective tissue disease, neoplasia and coagulopathy, which is associated with thromboembolic events. We present the case of a 10-year-old chronic hemodialysis patient with spontaneous hemothorax with a concurrent COVID-19 infection.

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