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1.
JCPSP-Journal of the College of Physicians and Surgeons Pakistan. 2009; 19 (2): 130-132
em Inglês | IMEMR | ID: emr-91614

RESUMO

We report a case of a rare disorder of renal amyloidosis occurring as a complication of juvenile rheumatoid arthritis in a 16-year-old adolescent male. He presented with generalized edema and hypertension. The laboratory work-up showed nephrotic-range proteinuria and hypoalbuminemia and normal renal function despite bilateral shrunken kidneys revealed by the abdominal ultrasound. His renal biopsy showed deposition of amyloid fibrils in the form of homogenous eosinophilic material within the glomeruli demonstrating the pathognomonic apple-green birefringence by polarized light microscopy


Assuntos
Humanos , Masculino , Amiloidose/diagnóstico , Rim/patologia , Artrite Juvenil/complicações , Edema , Hipertensão , Proteinúria , Hipoalbuminemia , Testes de Função Renal , Ultrassonografia
2.
JCPSP-Journal of the College of Physicians and Surgeons Pakistan. 2008; 18 (8): 520-521
em Inglês | IMEMR | ID: emr-102933

RESUMO

Galloway-Mowat syndrome is a rare multisystem genetic disorder with constellation of neurological, skeletal, growth, facial, gastrointestinal and renal abnormalities. This case report describes Galloway-Mowat syndrome in a young boy suffering from congenital microcephaly, developmental delay, seizures and various dysmorphic features in whom nephritic syndrome became apparent at 5 years of age


Assuntos
Humanos , Masculino , Feminino , Convulsões , Síndrome Nefrótica , Hérnia Hiatal , Doenças Genéticas Inatas , Microcefalia/patologia , Retardo do Crescimento Fetal/genética , Retardo do Crescimento Fetal/patologia , Anormalidades Múltiplas/genética
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