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Full-Text Articles in Nephrology
Hematuria Status Post Renal Biopsy, Bill Mcelhaugh
Hematuria Status Post Renal Biopsy, Bill Mcelhaugh
The Medicine Forum
This is a case of a 66 year old Caucasian woman admitted to the hospital following a ureteroscopic biopsy of the left renal pelvis. The biopsy was performed for asymptomatic hematuria, with a retrograde intravenous pyelogram revealing a mass in the left renal pelvis. The patient developed lightheadedness and left flank pain 12-24 hours following the procedure and was found to have a 3 gram drop in hemoglobin compared to blood work performed during the previous week.
Novel Napi-Iic Mutations Causing Hhrh And Idiopathic Hypercalciuria In Several Unrelated Families: Long-Term Follow-Up In One Kindred., Y Yu, S R. Sanderson, M Reyes, A Sharma, N Dunbar, Tarak Srivastava, H Jüppner, C Bergwitz
Novel Napi-Iic Mutations Causing Hhrh And Idiopathic Hypercalciuria In Several Unrelated Families: Long-Term Follow-Up In One Kindred., Y Yu, S R. Sanderson, M Reyes, A Sharma, N Dunbar, Tarak Srivastava, H Jüppner, C Bergwitz
Manuscripts, Articles, Book Chapters and Other Papers
Homozygous and compound heterozygous mutations in SLC34A3, the gene encoding the sodium-dependent co-transporter NaPi-IIc, cause hereditary hypophosphatemic rickets with hypercalciuria (HHRH), a disorder characterized by renal phosphate-wasting resulting in hypophosphatemia, elevated 1,25(OH)(2) vitamin D levels, hypercalciuria, rickets/osteomalacia, and frequently kidney stones or nephrocalcinosis. Similar albeit less severe biochemical changes are also observed in heterozygous carriers, which are furthermore indistinguishable from those encountered in idiopathic hypercalciuria (IH). We now searched for SLC34A3 mutations (exons and introns) in two previously not reported HHRH kindreds, which resulted in the identification of three novel mutations. The affected members of kindred A were compound heterozygous …