9 תוצאות
All 25 infants with primary hyperoxaluria type I (PH) so far reported in detail (including one own observation) presented in renal failure (RF) whereas urolithiasis has conspiciously been absent. Diagnosis of PH was often delayed due to nonspecific symptoms of RF: Vomiting, anemia and severe
OBJECTIVE
To report a case of an infant with endstage renal failure caused by primary hyperoxaluria.
METHODS
The review of the literature showed the rarity of the disease. In France, the prevalence is about 1.05/million and the incidence rate is 0.12/million/year. A survey, performed in
Primary hyperoxaluria type 1 is a rare autosomal-recessive disease caused by the deficient activity of the liver specific enzyme alanine-glyoxylate aminotransferase. Increased endogenous oxalate production induces severe hyperoxaluria, recurrent urolithiasis, progressive nephrocalcinosis and renal
Primary hyperoxaluria type 1 (PH1) is a rare metabolic disorder caused by a defect in glyoxylate metabolism attributable to low or absent activity of the liver-specific peroxisomal enzyme alanine/glyoxylate aminotransferase. This defect leads to enhanced conversion of glyoxylate to poorly soluble
A 29-year old female presented with a one-week history of vomiting, diarrhoea, abdominal pain, and headache. On admission, she had acute renal failure requiring dialysis. Tests revealed a hemolytic anemia with thrombocytopenia. An initial diagnosis of thrombotic thrombocytopenic microangiopathy was
Fourteen patients underwent small bowel bypass (SBB) takedown for complications such as chronic nausea and vomiting, excessive flatus, intractable diarrhea, liver dysfunction, electrolyte imbalance, hyperoxaluria with renal stones, and arthritis. The average weight loss in these 14 patients after
Objective: To study the etiological profile and patterns of clinical presentations of urolithiasis (UL) in children.
Methods: This observational study included patients <18
Brake oil is an automobile transmission fluid composed of a mixture of toxic alcohols such as ethylene glycols and glycol ethers. Both accidental and intentional ingestion cases have been reported and they can present with multisystem involvement. Life-threatening complications evolve We evaluated the clinical, radiological and metabolic features of 162 children with urolithiasis or microlithiasis who had been referred to our pediatric nephrology clinics between 1998 and 2008 with suspected urolithiasis. The medical histories of these children (78 girls, 84 boys), who ranged in