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

ABSTRACT

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


Subject(s)
Humans , Male , Amyloidosis/diagnosis , Kidney/pathology , Arthritis, Juvenile/complications , Edema , Hypertension , Proteinuria , Hypoalbuminemia , Kidney Function Tests , Ultrasonography
2.
JCPSP-Journal of the College of Physicians and Surgeons Pakistan. 2008; 18 (8): 520-521
in English | IMEMR | ID: emr-102933

ABSTRACT

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


Subject(s)
Humans , Male , Female , Seizures , Nephrotic Syndrome , Hernia, Hiatal , Genetic Diseases, Inborn , Microcephaly/pathology , Fetal Growth Retardation/genetics , Fetal Growth Retardation/pathology , Abnormalities, Multiple/genetics
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