1/6. Small intestinal infarction: a fatal complication of systemic oxalosis.Primary hyperoxaluria is a rare genetic disorder characterised by calcium oxalate nephrolithiasis and nephrocalcinosis leading to renal failure, often with extra-renal oxalate deposition (systemic oxalosis). Although ischaemic complications of crystal deposition in vessel walls are well recognised clinically, these usually take the form of peripheral limb or cutaneous ischaemia. This paper documents the first reported case of fatal intestinal infarction in a 49 year old woman with systemic oxalosis and advocates its consideration in the differential diagnosis of an acute abdomen in such patients.- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |
2/6. Primary hyperoxaluria: report of a patient with livedo reticularis and digital infarcts.Primary hyperoxaluria encompasses 3 rare genetic disorders of glyoxylate metabolism characterized by excessive urinary excretion of oxalic acid, resulting in oxalosis. patients typically have recurrent calcium oxalate nephrolithiasis and nephrocalcinosis, leading to chronic renal failure and death from uremia. Oxalate can deposit in extrarenal sites such as the heart, walls of arteries and veins, bone, and skin. We report a patient who presented with acute renal failure and later experienced livedo reticularis and peripheral gangrene before the diagnosis of primary hyperoxaluria was established. A skin biopsy specimen demonstrated numerous characteristic elongate to diamond-shaped, radially oriented, pale yellow translucent oxalate crystals within the vessels, and vessel walls of the subcutaneous fat that were strongly birefringent under polarized light.- - - - - - - - - - ranking = 2keywords = vessel (Clic here for more details about this article) |
3/6. A case of late-onset primary hyperoxaluria type 1.Primary hyperoxaluria type 1 (PH1) is an inherited metabolic disorder characterized by recurrent urolithiasis and nephrocalcinosis frequently leading to progressive renal insufficiency during the second decade of life. Systemic organ involvement as a result of the accumulation of calcium oxalate crystal deposits in vessel walls often is observed. We report a case of a 56-year-old woman with late-onset of PH1 who developed rapidly progressive renal failure and severe systemic oxalosis with skin and eye involvement despite intensified hemodialytic therapy during the waiting period for combined liver and kidney transplantation. This case illustrates the difficulties in treatment of PH1-induced end-stage renal disease. Combined liver and kidney transplantation should be offered to these patients as soon as possible to reverse the underlying metabolic defect and to restore renal function.- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |
4/6. Ocular histopathologic findings in a 46-year-old man with primary hyperoxaluria.A 46-year-old Japanese man with familial primary hyperoxaluria had been suffering from urolithiasis since the age of 6 years and had been treated by hemodialysis for 8 years before his death. The alpha-ketoglutarate glyoxylate carboligase and serine pyruvate transoxylase activities in the patient's liver had markedly decreased, indicating type I primary hyperoxaluria. Ocular tissues obtained at autopsy were studied immunohistochemically and histochemically. The ocular alterations were characterized by an unusual distribution of oxalate deposits, mainly located in the outer plexiform layer and the nuclear layer but not in the retinal pigment epithelium or in the vascularized layer of the sensory retina. These distributions of the oxalate deposits were determined to be unrelated to the blood vessels.- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |
5/6. Reversible arterial spasm in an adolescent with primary oxalosis.A 16-year-old girl with primary oxalosis type I presented with progressive claudication soon after being treated with chronic intermittent hemodialysis. Arterial insufficiency of the lower limbs was confirmed clinically (purple discoloration of the skin and absence of arterial pulses) and with Doppler sonography. The arteriogram showed diffuse and symmetric narrowing with smooth vessel walls. Treatment with sodium nitroprusside had a spectacular effect; nifedipine was less effective. Renal transplantation with the father's kidney resulted in a rapid, complete and sustained reversal of the ischemic features. magnesium withdrawal is assumed to be a pathogenic factor of the vascular spasm in this patient.- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |
6/6. Fatal cutaneous necrosis mimicking calciphylaxis in a patient with type 1 primary hyperoxaluria.BACKGROUND: Cutaneous necrosis of the proximal lower extremities in a patient with end-stage renal disease is the classic presentation of calciphylaxis, an untreatable, rare, generally fatal necrotizing cutaneous syndrome. Type 1 primary hyperoxaluria (PH-1) usually presents in childhood with recurrent urolithiasis. Since enzymatic studies to confirm the metabolic defect are now available, some cases of idiopathic renal failure in adulthood have been shown to be caused by PH-1. These patients may develop vascular oxalate deposits resulting in livedo reticularis and distal acral vascular insufficiency. OBSERVATIONS: We describe a patient who presented in end-stage renal failure with proximal lower extremity cutaneous necrosis suggestive of calciphylaxis. A cutaneous biopsy specimen revealed oxalate crystals within blood vessels, and a diagnosis of PH-1 was confirmed enzymatically. CONCLUSIONS: This patient illustrates that PH-1 may present in adulthood, and, in the setting of cutaneous necrosis associated with end-stage renal disease, it may be confused with calciphylaxis. The importance of making a diagnosis of PH-1 is the potential ability to achieve long-term survival by reversing the underlying metabolic defect with hepatic transplantation.- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |