UROLITHIASIS/ENDOUROLOGY
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similar. This result suggests that there may be increased sensitivity of the calcium sensing receptor in those with hypercalciuria, resulting in reduced parathyroid hormone and attenuated reabsorption of calcium in the thick ascending limb of the loop of Henle. Dean G. Assimos, MD
Suggested Reading Dinour D, Beckerman P, Ganon L et al: Loss-of-function mutations of CYP24A1, the vitamin D 24-hydroxylase gene, cause long-standing hypercalciuric nephrolithiasis and nephrocalcinosis. J Urol 2013; 190: 552. Pak CY, Sakhaee K and Pearle MS: Detection of absorptive hypercalciuria type I without the oral calcium load test. J Urol 2011; 185: 915.
Re: Vitamin D Status in Patients with Recurrent Kidney Stones C. Pipili and D. G. Oreopoulos Kidney Stone Clinic, University Health Network, Toronto, Ontario, Canada Nephron Clin Pract 2012; 122: 134e138.
Abstract available at http://jurology.com/ Editorial Comment: There is a high prevalence of vitamin D deficiency in the United States. These investigators demonstrated that this finding also held true for recurrent kidney stone formers, with a third having this disorder. They also showed that serum vitamin D had an inverse correlation with serum parathyroid hormone levels. The impact of replenishing vitamin D on stone risk has not been completely defined. It has been previously reported that vitamin D replenishment does not alter urinary calcium excretion in healthy postmenopausal women. Dean G. Assimos, MD
Suggested Reading Pitman MS, Cheetham PJ, Hruby GW et al: Vitamin D deficiency in the urological population: a single center analysis. J Urol 2011; 186: 1395.
Re: Further Delineation of Genotype-Phenotype Correlation in Homozygous 2p21 Deletion Syndromes: First Description of Patients without Cystinuria D. Bartholdi, R. Asadollahi, B. Oneda, T. Schmitt-Mechelke, P. Tonella, A. Baumer and A. Rauch Institute of Medical Genetics, University of Zurich, Schwerzenbach, Switzerland Am J Med Genet A 2013; 161A: 1853e1859.
Abstract available at http://jurology.com/ Editorial Comment: Cystinuria is a rare autosomal recessive disorder resulting in excess excretion of cystine and bibasic amino acids. This mechanism leads to development of kidney stones composed of cystine generally earlier in life than in the typical stone former. Cystinuria can be associated with rare overlapping recessive microdeletion syndromes in which those afflicted have cystine stones associated with neuromuscular symptoms (hypotonia-cystinuria syndrome). Affected individuals have homozygous deletions for SLC3A1, one of the genes associated with cystinuria, and the nearby
679
similar. This result suggests that there may be increased sensitivity of the calcium sensing receptor in those with hypercalciuria, resulting in reduced parathyroid hormone and attenuated reabsorption of calcium in the thick ascending limb of the loop of Henle. Dean G. Assimos, MD
Suggested Reading Dinour D, Beckerman P, Ganon L et al: Loss-of-function mutations of CYP24A1, the vitamin D 24-hydroxylase gene, cause long-standing hypercalciuric nephrolithiasis and nephrocalcinosis. J Urol 2013; 190: 552. Pak CY, Sakhaee K and Pearle MS: Detection of absorptive hypercalciuria type I without the oral calcium load test. J Urol 2011; 185: 915.
Re: Vitamin D Status in Patients with Recurrent Kidney Stones C. Pipili and D. G. Oreopoulos Kidney Stone Clinic, University Health Network, Toronto, Ontario, Canada Nephron Clin Pract 2012; 122: 134e138.
Abstract available at http://jurology.com/ Editorial Comment: There is a high prevalence of vitamin D deficiency in the United States. These investigators demonstrated that this finding also held true for recurrent kidney stone formers, with a third having this disorder. They also showed that serum vitamin D had an inverse correlation with serum parathyroid hormone levels. The impact of replenishing vitamin D on stone risk has not been completely defined. It has been previously reported that vitamin D replenishment does not alter urinary calcium excretion in healthy postmenopausal women. Dean G. Assimos, MD
Suggested Reading Pitman MS, Cheetham PJ, Hruby GW et al: Vitamin D deficiency in the urological population: a single center analysis. J Urol 2011; 186: 1395.
Re: Further Delineation of Genotype-Phenotype Correlation in Homozygous 2p21 Deletion Syndromes: First Description of Patients without Cystinuria D. Bartholdi, R. Asadollahi, B. Oneda, T. Schmitt-Mechelke, P. Tonella, A. Baumer and A. Rauch Institute of Medical Genetics, University of Zurich, Schwerzenbach, Switzerland Am J Med Genet A 2013; 161A: 1853e1859.
Abstract available at http://jurology.com/ Editorial Comment: Cystinuria is a rare autosomal recessive disorder resulting in excess excretion of cystine and bibasic amino acids. This mechanism leads to development of kidney stones composed of cystine generally earlier in life than in the typical stone former. Cystinuria can be associated with rare overlapping recessive microdeletion syndromes in which those afflicted have cystine stones associated with neuromuscular symptoms (hypotonia-cystinuria syndrome). Affected individuals have homozygous deletions for SLC3A1, one of the genes associated with cystinuria, and the nearby
