Urological Survey Urolithiasis/Endourology Re: History of Kidney Stones and the Risk of Coronary Heart Disease P. M. Ferraro, E. N. Taylor, B. H. Eisner, G. Gambaro, E. B. Rimm, K. J. Mukamal and G. C. Curhan Division of NephrologydRenal Program, Department of Internal Medicine and Medical Specialties, Columbus-Gemelli Hospital, Rome, Italy JAMA 2013; 310: 408e415.
Abstract available at http://jurology.com/ Editorial Comment: Kidney stone formation is associated with many systemic problems, including diabetes, hypertension, obesity, chronic kidney disease, peripheral arterial vascular disease and coronary artery disease. Some of these risks (diabetes and hypertension) are bidirectional. These investigators assessed the association with coronary artery disease, as defined by development of myocardial infarction or need for coronary artery revascularization, in 3 large epidemiological cohorts (Health Professionals Follow-Up Study and Nurses’ Health Study I and II). They found that stone formation was associated with a risk of a coronary artery event in females but not in males. The reason for this differential risk is unclear. Urologists need to be aware of these associations, as certain patients may benefit from cardiovascular screening. Dean G. Assimos, MD
Suggested Reading Reiner AP, Kahn A, Eisner BH et al: Kidney stones and subclinical atherosclerosis in young adults: the CARDIA study. J Urol 2011; 185: 920. Stoller ML, Meng MV, Abrahams HM et al: The primary stone event: a new hypothesis involving a vascular etiology. J Urol 2004; 171: 1920.
Re: Evidence for Increased Renal Tubule and Parathyroid Gland Sensitivity to Serum Calcium in Human Idiopathic Hypercalciuria E. M. Worcester, K. J. Bergsland, D. L. Gillen and F. L. Coe Nephrology Section, University of Chicago Medicine, Chicago, Illinois Am J Physiol Renal Physiol 2013; 30: F853eF860.
Abstract available at http://jurology.com/ Editorial Comment: Increased urinary calcium excretion is a risk factor for calcium oxalate and calcium phosphate stones. The pathophysiology of hypercalciuria in stone formers is still being defined. Decreased calcium reabsorption in the nephron has a significant role. These investigators assessed the responses of normal subjects and those with idiopathic hypercalciuria to controlled diets. Urine and serum samples were collected. They found that the fractional excretion of calcium was greater in those with hypercalciuria, while serum parathyroid hormone, insulin and calcium were 0022-5347/14/1913-0678/0 THE JOURNAL OF UROLOGY® © 2014 by AMERICAN UROLOGICAL ASSOCIATION EDUCATION
678
j
www.jurology.com
AND
RESEARCH, INC.
http://dx.doi.org/10.1016/j.juro.2013.11.032 Vol. 191, 678-680, March 2014 Printed in U.S.A.
UROLITHIASIS/ENDOUROLOGY
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
UROLITHIASIS/ENDOUROLOGY
680
PREPL gene located on chromosome 2p21. These investigators report the first known case in which a homozygous microdeletion on 2p21 did not involve SLC3A1. This article is profiled to alert urologists about the association of cystinuria and neuromuscular pathology. Dean G. Assimos, MD
Suggested Reading Asplin DM and Asplin JR: The interaction of thiol drugs and urine pH in the treatment of cystinuria. J Urol 2013; 189: 2147. DeBerardinis RJ, Coughlin CR II and Kaplan P: Penicillamine therapy for pediatric cystinuria: experience from a cohort of American children. J Urol 2008; 180: 2620. Pareek G, Steele TH and Nakada SY: Urological intervention in patients with cystinuria is decreased with medical compliance. J Urol 2005; 174: 2250.
Abstract available at http://jurology.com/ Editorial Comment: Kidney stone formation is associated with many systemic problems, including diabetes, hypertension, obesity, chronic kidney disease, peripheral arterial vascular disease and coronary artery disease. Some of these risks (diabetes and hypertension) are bidirectional. These investigators assessed the association with coronary artery disease, as defined by development of myocardial infarction or need for coronary artery revascularization, in 3 large epidemiological cohorts (Health Professionals Follow-Up Study and Nurses’ Health Study I and II). They found that stone formation was associated with a risk of a coronary artery event in females but not in males. The reason for this differential risk is unclear. Urologists need to be aware of these associations, as certain patients may benefit from cardiovascular screening. Dean G. Assimos, MD
Suggested Reading Reiner AP, Kahn A, Eisner BH et al: Kidney stones and subclinical atherosclerosis in young adults: the CARDIA study. J Urol 2011; 185: 920. Stoller ML, Meng MV, Abrahams HM et al: The primary stone event: a new hypothesis involving a vascular etiology. J Urol 2004; 171: 1920.
Re: Evidence for Increased Renal Tubule and Parathyroid Gland Sensitivity to Serum Calcium in Human Idiopathic Hypercalciuria E. M. Worcester, K. J. Bergsland, D. L. Gillen and F. L. Coe Nephrology Section, University of Chicago Medicine, Chicago, Illinois Am J Physiol Renal Physiol 2013; 30: F853eF860.
Abstract available at http://jurology.com/ Editorial Comment: Increased urinary calcium excretion is a risk factor for calcium oxalate and calcium phosphate stones. The pathophysiology of hypercalciuria in stone formers is still being defined. Decreased calcium reabsorption in the nephron has a significant role. These investigators assessed the responses of normal subjects and those with idiopathic hypercalciuria to controlled diets. Urine and serum samples were collected. They found that the fractional excretion of calcium was greater in those with hypercalciuria, while serum parathyroid hormone, insulin and calcium were 0022-5347/14/1913-0678/0 THE JOURNAL OF UROLOGY® © 2014 by AMERICAN UROLOGICAL ASSOCIATION EDUCATION
678
j
www.jurology.com
AND
RESEARCH, INC.
http://dx.doi.org/10.1016/j.juro.2013.11.032 Vol. 191, 678-680, March 2014 Printed in U.S.A.
UROLITHIASIS/ENDOUROLOGY
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
UROLITHIASIS/ENDOUROLOGY
680
PREPL gene located on chromosome 2p21. These investigators report the first known case in which a homozygous microdeletion on 2p21 did not involve SLC3A1. This article is profiled to alert urologists about the association of cystinuria and neuromuscular pathology. Dean G. Assimos, MD
Suggested Reading Asplin DM and Asplin JR: The interaction of thiol drugs and urine pH in the treatment of cystinuria. J Urol 2013; 189: 2147. DeBerardinis RJ, Coughlin CR II and Kaplan P: Penicillamine therapy for pediatric cystinuria: experience from a cohort of American children. J Urol 2008; 180: 2620. Pareek G, Steele TH and Nakada SY: Urological intervention in patients with cystinuria is decreased with medical compliance. J Urol 2005; 174: 2250.
