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Article
Open AccessKaryomegalic interstitial nephritis with a novel FAN1 gene mutation and concurrent ALECT2 amyloidosis
Karyomegalic interstitial nephritis (KIN) is a rare hereditary cause of chronic kidney disease. It typically causes progressive renal impairment with haemoproteinuria requiring renal replacement therapy before...
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Article
Open AccessCrescentic glomerulonephritis with anti-GBM antibody but no glomerular deposition
Anti-glomerular basement membrane (GBM) antibodies are highly specific for Goodpasture’s or anti-GBM disease, in which they are generally directed against the non-collagenous (NC1) domain of the alpha 3 chain ...
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Article
Open AccessFainting Fanconi syndrome clarified by proxy: a case report
Rare diseases may elude diagnosis due to unfamiliarity of the treating physicians with the specific disorder. Yet, advances in genetics have tremendously enhanced our ability to establish specific and sometime...
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Article
Acute renal failure in a patient with paroxysmal cold hemoglobinuria
Acute renal failure following auto-immune hemolysis is rare. We report a child with acute paroxysmal cold hemoglobinuria (PCH) complicated by renal failure. She was treated by peritoneal dialysis and red blood...
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Article
Tubulointerstitial nephritis and uveitis in monozygotic twin boys
We describe monozygotic male twins who developed tubulointerstitial nephritis and uveitis (TINU) almost 2 years apart. They presented with non-specific symptoms and were noted to have glycosuria and renal impa...