نتایج جستجو برای: nephrocalcinosis
تعداد نتایج: 1865 فیلتر نتایج به سال:
Dent disease (DD) is a rare X-linked recessive renal tubulopathy characterised by low-molecular-weight proteinuria (LMWP), hypercalciuria, nephrocalcinosis and/or nephrolithiasis. DD is caused by mutations in both the CLCN5 and OCRL genes. CLCN5 encodes the electrogenic chloride/proton exchanger ClC-5 which is involved in the tubular reabsorption of albumin and LMW proteins, OCRL encodes the in...
Caroli’s disease is a rare congenital disorder characterized by multiple segmental cystic dilatations of the intra-hepatic bile ducts that are related to each other. Caroli’s syndrome is more common and associated with hepatic fibrosis and renal cystic disease. This paper introduces a three year old boy with Caroli’s disease and medullary nephrocalcinosis presented with fever, abdominal pain,...
In this paper we will present four cases of primary hyperoxaluria. All patients had a significant past medical history of polyuria (with or without microscopic hematuria) and polydypsia. All patients had a family history of their parents being cousins. Initial evaluation of all patients by ultrasound and plain abdominal films revealed nephrocalcinosis. Their clinical courses showed gradual ...
AIMS To investigate urinary oxalate excretion in children with urolithiasis and/or nephrocalcinosis and to classify hyperoxaluria (HyOx). METHODS A total of 106 patients were screened. In those in whom the oxalate: creatinine ratio was increased, 24 hour urinary oxalate excretion was measured. Liver biopsy and/or genomic analysis was performed if primary hyperoxaluria (PH) was suspected. Stoo...
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