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Ultrasound Screening Criteria Proposed for Diagnosing Polycystic Kidney Disease

By MedImaging International staff writers
Posted on 11 Nov 2008
Modification of the current screening criteria for diagnosing patients with autosomal dominant polycystic disease (ADPKD) is needed, according to researchers. Their study's findings suggest that some patients with a milder form of the disease may otherwise be misdiagnosed.

ADPKD, a genetic disorder characterized by the growth of numerous cysts in the kidneys, can lead to reduced kidney function and kidney failure. It is the most common inherited disorder of the kidney, occurring in approximately 1 in 500 births, and symptoms typically develop between the ages of 30 and 40 years.

Individuals at risk for developing ADPKD are commonly screened by imaging techniques such as ultrasound. Diagnosis can also be made with a genetic test that detects mutations in the two genes that cause the disease, called PKD1 and PKD2. However, gene-based diagnosis is expensive and detects definitive mutations in only 41% to 63% of cases. In many clinical settings, it is rarely performed.

Testing for ADPKD in individuals whose families have a history of the disease is important. Young people who know they are affected may be able to better preserve their kidney function through diet, life style modification, and blood pressure control. Testing also can be used to determine whether an at-risk individual can safely donate a kidney to a family member with the disease.

Ultrasound screening for ADPKD is based on diagnostic criteria developed to detect cases caused by mutations in the PKD1 gene. This form of the disease is more common and more severe than the form caused by mutations in the PKD2 gene. Therefore, there may be a need for different diagnostic criteria for patients with the milder, less common form of autosomal dominant polycystic disease.

To test whether this is the case, York Pei, M.D., of the University of Toronto (Toronto, ON, Canada) and his colleagues performed kidney ultrasounds and genetic tests on 577 and 371 at-risk individuals from 58 PKD1 and 39 PKD2 families, respectively. The researchers found that the ultrasound diagnostic criteria currently in use may misdiagnose individuals with mutations in the PKD2 gene. Therefore, the investigators devised new ultrasound criteria that could effectively detect the disease in individuals with mutations in either PKD1 or PKD2 gene.

The investigators determined that in families of unknown gene type, the presence of three or more kidney cysts is sufficient for establishing the diagnosis in individuals aged 15 to 39 years, two or more cysts in each kidney is sufficient for individuals aged 40 to 59 years, and four or more cysts in each kidney is required for individuals aged 60 years. Moreover, fewer than two kidney cysts in at-risk individuals aged 40 years is enough to exclude the disease. For at-risk individuals aged 30 to 39 years, the absence of any kidney cysts provides almost certainty that the disease is not present.

"For the first time we have derived a set of highly predictive criteria for ultrasound diagnosis of ADPKD that is suitable for test subjects with either gene type,” said Dr. Pei. "These unified diagnostic criteria will be useful for genetic counseling and for evaluation of at-risk subjects as living-related kidney donors for their affected relatives.”

The study was published online on October 22, 2008, in the Journal of the American Society of Nephrology (JASN).

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87 (396.0132598877): SELECT fid FROM jos_deeppockets WHERE cat=10 AND id=294721019 AND (type='deeppockets_item' OR type='deeppockets_item_link') AND published='1' LIMIT 1
88 (!!!!! 2706.0508728027): SELECT fid FROM jos_deeppockets_archive WHERE cat=10 AND id=294721019 AND (type='deeppockets_item' OR type='deeppockets_item_link') AND published='1' LIMIT 1
89 (66.995620727539): SELECT id,name,title FROM jos_deeppockets WHERE cat=10 AND TYPE='file_folder' AND published=1 AND id != 294743300 AND id != 294743301 AND id != 294743302 AND id != 294743303 AND id != 294743304 AND id != 294743305 AND id != 294743306 AND id != 294743307 AND id != 294743308 AND id != 294743309 AND id != 294743310 AND metakey != 'aacc' ORDER BY `ordering`
90 (!!!!! 5939.9604797363): SELECT show_live FROM jos_com_show_setting LIMIT 1
91 (!!!!! 9320.0206756592): SELECT show_live FROM jos_com_show_setting LIMIT 1
92 (!!!!! 7819.8909759521): SELECT show_live FROM jos_com_show_setting LIMIT 1
93 (!!!!! 11059.045791626): SELECT show_live FROM jos_com_show_setting LIMIT 1
94 (!!!!! 1143.9323425293): SELECT show_live FROM jos_com_show_setting LIMIT 1
95 (682.83081054688): SELECT show_live FROM jos_com_show_setting LIMIT 1
96 (983.95347595215): SELECT show_live FROM jos_com_show_setting LIMIT 1
97 (459.90943908691): SELECT show_live FROM jos_com_show_setting LIMIT 1
98 (!!!!! 1725.9120941162): SELECT show_live FROM jos_com_show_setting LIMIT 1
99 (232.93495178223): SELECT show_live FROM jos_com_show_setting LIMIT 1
100 (!!!!! 2254.0092468262): SELECT show_live FROM jos_com_show_setting LIMIT 1
101 (!!!!! 4632.9498291016): SELECT show_live FROM jos_com_show_setting LIMIT 1
102 (!!!!! 1345.157623291): SELECT show_live FROM jos_com_show_setting LIMIT 1
103 (453.94897460938): SELECT show_live FROM jos_com_show_setting LIMIT 1
104 (!!!!! 2418.041229248): SELECT * FROM jos_deeppockets WHERE 1=1 AND id=294721019 AND published='1' union SELECT * FROM jos_deeppockets_archive WHERE 1=1 AND id=294721019 AND published='1' LIMIT 1
105 (327.11029052734): SELECT * FROM jos_deeppockets WHERE 1=1 AND id=294721019 AND published='1' union SELECT * FROM jos_deeppockets_archive WHERE 1=1 AND id=294721019 AND published='1' LIMIT 1
106 (!!!!! 1513.9579772949): SELECT dp.*, ch.title as channel, exp.name as author_name, exp.specialization as author_specialization, exp.images as author_photo FROM jos_deeppockets as dp LEFT JOIN jos_experts as exp ON exp.id = dp.author LEFT JOIN jos_deeppockets as ch ON dp.fid = ch.id WHERE 1=1 AND dp.cat=10 AND dp.id=294721019 AND (dp.type='deeppockets_item' OR dp.type='deeppockets_item_link') AND dp.published='1' LIMIT 1
107 (663.99574279785): SELECT dp.*, ch.title as channel, exp.name as author_name, exp.specialization as author_specialization, exp.images as author_photo FROM jos_deeppockets_archive as dp LEFT JOIN jos_experts as exp ON exp.id = dp.author LEFT JOIN jos_deeppockets as ch ON dp.fid = ch.id WHERE 1=1 AND dp.cat=10 AND dp.id=294721019 AND (dp.type='deeppockets_item' OR dp.type='deeppockets_item_link') AND dp.published='1' LIMIT 1
108 (!!!!! 9692.907333374): SELECT * FROM jos_deeppockets WHERE 1=1 AND id=294721019 AND published='1' union SELECT * FROM jos_deeppockets_archive WHERE 1=1 AND id=294721019 AND published='1' LIMIT 1
109 (!!!!! 7946.0144042969): SELECT * FROM jos_deeppockets WHERE 1=1 AND id=294721019 AND published='1' union SELECT * FROM jos_deeppockets_archive WHERE 1=1 AND id=294721019 AND published='1' LIMIT 1
110 (!!!!! 7365.9420013428): SELECT dp.*, ch.title as channel, exp.name as author_name, exp.specialization as author_specialization, exp.images as author_photo FROM jos_deeppockets as dp LEFT JOIN jos_experts as exp ON exp.id = dp.author LEFT JOIN jos_deeppockets as ch ON dp.fid = ch.id WHERE 1=1 AND dp.id=294721019 AND (dp.type='deeppockets_item' OR dp.type='deeppockets_item_link') AND dp.published='1' LIMIT 1
111 (!!!!! 9204.8645019531): SELECT dp.*, ch.title as channel, exp.name as author_name, exp.specialization as author_specialization, exp.images as author_photo FROM jos_deeppockets_archive as dp LEFT JOIN jos_experts as exp ON exp.id = dp.author LEFT JOIN jos_deeppockets as ch ON dp.fid = ch.id WHERE 1=1 AND dp.id=294721019 AND (dp.type='deeppockets_item' OR dp.type='deeppockets_item_link') AND dp.published='1' LIMIT 1
112 (!!!!! 5959.9876403809): SELECT dp.name, dp.id, dp2.name as channel, ex.name as author_name, ex.specialization, ex.images FROM jos_deeppockets as dp LEFT JOIN jos_experts as ex ON ex.id = dp.author LEFT JOIN jos_deeppockets as dp2 ON dp2.id = dp.fid WHERE dp.author != 0 AND dp.cat = 10 AND dp.published = 1 AND ( (dp.fid = 294743300) OR (dp.fid = 294743301) OR (dp.fid = 294743302) OR (dp.fid = 294743303) OR (dp.fid = 294743304) OR (dp.fid = 294743305) OR (dp.fid = 294743306) OR (dp.fid = 294743307) OR (dp.fid = 294743308) OR (dp.fid = 294743309) OR (dp.fid = 294743310) ) ORDER BY RAND() LIMIT 1
113 (!!!!! 6165.9812927246): SELECT dp.name, dp.id, dp2.name as channel, ex.name as author_name, ex.specialization, ex.images FROM jos_deeppockets as dp LEFT JOIN jos_experts as ex ON ex.id = dp.author LEFT JOIN jos_deeppockets as dp2 ON dp2.id = dp.fid WHERE dp.author != 0 AND dp.cat = 10 AND dp.published = 1 AND ( (dp.fid = 294743300) OR (dp.fid = 294743301) OR (dp.fid = 294743302) OR (dp.fid = 294743303) OR (dp.fid = 294743304) OR (dp.fid = 294743305) OR (dp.fid = 294743306) OR (dp.fid = 294743307) OR (dp.fid = 294743308) OR (dp.fid = 294743309) OR (dp.fid = 294743310) ) ORDER BY RAND() LIMIT 1
114 (!!!!! 6946.0868835449): SELECT * FROM jos_deeppockets WHERE 1=1 AND id=294721019 AND published='1' union SELECT * FROM jos_deeppockets_archive WHERE 1=1 AND id=294721019 AND published='1' LIMIT 1
115 (!!!!! 7786.9892120361): SELECT * FROM jos_deeppockets WHERE 1=1 AND id=294721019 AND published='1' union SELECT * FROM jos_deeppockets_archive WHERE 1=1 AND id=294721019 AND published='1' LIMIT 1
116 (!!!!! 3680.944442749): SELECT * FROM jos_deeppockets WHERE 1=1 AND id=294721019 AND published='1' union SELECT * FROM jos_deeppockets_archive WHERE 1=1 AND id=294721019 AND published='1' LIMIT 1
117 (!!!!! 1173.9730834961): SELECT * FROM jos_deeppockets WHERE 1=1 AND id=294721019 AND published='1' union SELECT * FROM jos_deeppockets_archive WHERE 1=1 AND id=294721019 AND published='1' LIMIT 1
118 (!!!!! 1425.9815216064): SELECT * FROM jos_deeppockets WHERE 1=1 AND id=294721019 AND published='1' union SELECT * FROM jos_deeppockets_archive WHERE 1=1 AND id=294721019 AND published='1' LIMIT 1
119 (!!!!! 1586.1988067627): SELECT * FROM jos_deeppockets WHERE 1=1 AND id=294721019 AND published='1' union SELECT * FROM jos_deeppockets_archive WHERE 1=1 AND id=294721019 AND published='1' LIMIT 1
120 (!!!!! 1544.9523925781): SELECT * FROM jos_deeppockets WHERE 1=1 AND id=294721019 AND published='1' union SELECT * FROM jos_deeppockets_archive WHERE 1=1 AND id=294721019 AND published='1' LIMIT 1
121 (540.01808166504): SELECT * FROM jos_deeppockets WHERE 1=1 AND id=294721019 AND published='1' union SELECT * FROM jos_deeppockets_archive WHERE 1=1 AND id=294721019 AND published='1' LIMIT 1
122 (838.04130554199): SELECT * FROM trending_articles WHERE `journal_id` = 10 AND `timestamp` <= NOW() + INTERVAL 7 DAY ORDER BY `order`
123 (!!!!! 63802.003860474): SELECT * FROM jos_deeppockets WHERE jos_deeppockets.cat = 10 AND jos_deeppockets.type = 'deeppockets_item' AND jos_deeppockets.published = 1 AND jos_deeppockets.created + INTERVAL 14 DAY >= NOW() ORDER BY jos_deeppockets.hits DESC LIMIT 7
124 (!!!!! 1459.1217041016): SELECT fid FROM jos_deeppockets WHERE cat=10 AND id=294721019 AND type='deeppockets_item' AND published='1' union SELECT fid FROM jos_deeppockets_archive WHERE cat=10 AND id=294721019 AND type='deeppockets_item' AND published='1' LIMIT 1
125 (63.896179199219): ( SELECT dp.id, dp.name, dp.title, dp.video, dp.video_source, dp.created FROM jos_deeppockets AS dp WHERE dp.video != '' AND dp.video_source != '' AND dp.cat = 10 AND dp.published = 1 AND dp.type != 'deeppockets_item_link' ORDER BY created DESC LIMIT 3 ) UNION ( SELECT dpa.id, dpa.name, dpa.title, dpa.video, dpa.video_source, dpa.created FROM jos_deeppockets_archive AS dpa WHERE dpa.video != '' AND dpa.video_source != '' AND dpa.cat = 10 AND dpa.published = 1 AND dpa.type != 'deeppockets_item_link' ORDER BY created DESC LIMIT 3 ) ORDER BY created DESC LIMIT 3
126 (36.001205444336): ( SELECT dp.id, dp.name, dp.title, dp.video, dp.video_source, dp.created FROM jos_deeppockets AS dp WHERE dp.video != '' AND dp.video_source != '' AND dp.cat = 10 AND dp.published = 1 AND dp.type != 'deeppockets_item_link' ORDER BY created DESC LIMIT 3 ) UNION ( SELECT dpa.id, dpa.name, dpa.title, dpa.video, dpa.video_source, dpa.created FROM jos_deeppockets_archive AS dpa WHERE dpa.video != '' AND dpa.video_source != '' AND dpa.cat = 10 AND dpa.published = 1 AND dpa.type != 'deeppockets_item_link' ORDER BY created DESC LIMIT 3 ) ORDER BY created DESC LIMIT 3
127 (385.04600524902): SELECT dp.id, dp.name, dp.title, dp.video, dp.video_source, dp.created FROM jos_deeppockets AS dp WHERE dp.id = 294803337 LIMIT 1
128 (126.83868408203): SELECT dp.id, dp.name, dp.title, dp.video, dp.video_source, dp.created FROM jos_deeppockets AS dp WHERE dp.id = 294803337 LIMIT 1
129 (!!!!! 1691.1029815674): SELECT dp.id, dp.name, dp.title, dp.video, dp.video_source, dp.created FROM jos_deeppockets AS dp WHERE dp.id = 294803276 LIMIT 1
130 (514.98413085938): SELECT dp.id, dp.name, dp.title, dp.video, dp.video_source, dp.created FROM jos_deeppockets AS dp WHERE dp.id = 294803276 LIMIT 1
131 (490.18859863281): SELECT dp.id, dp.name, dp.title, dp.video, dp.video_source, dp.created FROM jos_deeppockets_archive AS dp WHERE dp.id = 294803276 LIMIT 1
132 (249.14741516113): SELECT dp.id, dp.name, dp.title, dp.video, dp.video_source, dp.created FROM jos_deeppockets_archive AS dp WHERE dp.id = 294803276 LIMIT 1
133 (488.9965057373): SELECT dp.id, dp.name, dp.title, dp.video, dp.video_source, dp.created FROM jos_deeppockets AS dp WHERE dp.id = 294802958 LIMIT 1
134 (77.009201049805): SELECT dp.id, dp.name, dp.title, dp.video, dp.video_source, dp.created FROM jos_deeppockets AS dp WHERE dp.id = 294802958 LIMIT 1
135 (!!!!! 1765.0127410889): SELECT * FROM jos_deeppockets WHERE 1=1 AND id=294721019 AND (type='deeppockets_item' OR type='deeppockets_item_link') AND published='1' LIMIT 1
136 (!!!!! 3669.0235137939): SELECT * FROM jos_deeppockets_archive WHERE 1=1 AND id=294721019 AND (type='deeppockets_item' OR type='deeppockets_item_link') AND published='1' LIMIT 1
137 (!!!!! 3859.9967956543): SELECT name FROM jos_deeppockets WHERE id=214
138 (!!!!! 3480.9112548828): SELECT name FROM jos_deeppockets WHERE id=214
139 (!!!!! 1358.9859008789): SELECT *, DATE_FORMAT(publish_up,'%d %b %Y') AS date_publish_up, DATE_FORMAT(publish_down,'%d %b %Y') AS date_publish_down FROM jos_events WHERE state=1 AND publish_up > NOW() and extra_info REGEXP '((;)|(^))214((;)|($))' AND catid IN (0,110) ORDER BY publish_up ASC LIMIT 3
140 (!!!!! 7630.8250427246): SELECT *, DATE_FORMAT(publish_up,'%d %b %Y') AS date_publish_up, DATE_FORMAT(publish_down,'%d %b %Y') AS date_publish_down FROM jos_events WHERE state=1 AND publish_up > NOW() and extra_info REGEXP '((;)|(^))214((;)|($))' AND catid IN (0,110) ORDER BY publish_up ASC LIMIT 3
141 (!!!!! 6210.0887298584): SELECT * FROM jos_deeppockets WHERE 1=1 AND id=294721019 AND published='1' union SELECT * FROM jos_deeppockets_archive WHERE 1=1 AND id=294721019 AND published='1' LIMIT 1
142 (!!!!! 2630.9490203857): SELECT * FROM jos_deeppockets WHERE 1=1 AND id=294721019 AND published='1' union SELECT * FROM jos_deeppockets_archive WHERE 1=1 AND id=294721019 AND published='1' LIMIT 1
143 (!!!!! 6019.8307037354): TRUNCATE TABLE jos_trademed_module
144 (!!!!! 3274.2023468018): SELECT dp.*, ch.title as channel, exp.name as author_name, exp.specialization as author_specialization, exp.images as author_photo FROM jos_deeppockets as dp LEFT JOIN jos_experts as exp ON exp.id = dp.author LEFT JOIN jos_deeppockets as ch ON dp.fid = ch.id WHERE 1=1 AND dp.cat=10 AND dp.id=294721019 AND (dp.type='deeppockets_item' OR dp.type='deeppockets_item_link') AND dp.published='1' LIMIT 1
145 (!!!!! 1005.8879852295): SELECT dp.*, ch.title as channel, exp.name as author_name, exp.specialization as author_specialization, exp.images as author_photo FROM jos_deeppockets_archive as dp LEFT JOIN jos_experts as exp ON exp.id = dp.author LEFT JOIN jos_deeppockets as ch ON dp.fid = ch.id WHERE 1=1 AND dp.cat=10 AND dp.id=294721019 AND (dp.type='deeppockets_item' OR dp.type='deeppockets_item_link') AND dp.published='1' LIMIT 1
146 (!!!!! 1820.0874328613): SELECT * FROM jos_deeppockets WHERE 1=1 AND id=294721019 AND (type='deeppockets_item' OR type='deeppockets_item_link') AND published='1' LIMIT 1
147 (76.055526733398): SELECT * FROM jos_deeppockets WHERE 1=1 AND id=294721019 AND (type='deeppockets_item' OR type='deeppockets_item_link') AND published='1' LIMIT 1
148 (889.06288146973): SELECT * FROM jos_deeppockets WHERE 1=1 AND id=294721019 AND published='1' union SELECT * FROM jos_deeppockets_archive WHERE 1=1 AND id=294721019 AND published='1' LIMIT 1
149 (737.90550231934): SELECT * FROM jos_deeppockets WHERE 1=1 AND id=294721019 AND published='1' union SELECT * FROM jos_deeppockets_archive WHERE 1=1 AND id=294721019 AND published='1' LIMIT 1
150 (!!!!! 3700.9716033936): SELECT jos_item.* FROM jos_item INNER JOIN jos_number ON jos_item.numberID=jos_number.id WHERE 1=1 AND (jos_item.imgMini<>'') AND jos_item.type='L' AND jos_item.numberID= ( SELECT jos_number.id FROM jos_number WHERE jos_number.journalID IN (10) and jos_number.id in (select distinct jos_number.id from jos_number join jos_item on jos_item.numberid=jos_number.id where jos_item.type='P') ORDER BY (CONVERT(SUBSTRING(issue,1,2),SIGNED) + (CONVERT(SUBSTRING(issue,3,2),SIGNED)*100)) DESC LIMIT 0,1 ) ORDER BY RAND() DESC LIMIT 6
151 (!!!!! 1856.0886383057): SELECT * FROM jos_deeppockets WHERE 1=1 AND id=294721019 AND published='1' union SELECT * FROM jos_deeppockets_archive WHERE 1=1 AND id=294721019 AND published='1' LIMIT 1
152 (422.95455932617): SELECT * FROM jos_deeppockets WHERE 1=1 AND id=294721019 AND published='1' union SELECT * FROM jos_deeppockets_archive WHERE 1=1 AND id=294721019 AND published='1' LIMIT 1
153 (289.9169921875): SELECT fid FROM jos_deeppockets WHERE cat=10 AND id=294721019 AND type='deeppockets_item' AND published='1' union SELECT fid FROM jos_deeppockets_archive WHERE cat=10 AND id=294721019 AND type='deeppockets_item' AND published='1' LIMIT 1
154 (!!!!! 3646.1353302002): select distinct links.* from jos_textlinks links join jos_textlinks_placement placement on links.id=placement.link_id where journal_id=(10) and (channel_id=214 or channel_id is null)
155 (!!!!! 3968.9540863037): select distinct links.* from jos_textlinks links join jos_textlinks_placement placement on links.id=placement.link_id where journal_id=(10) and (channel_id=214 or channel_id is null)
156 (!!!!! 1380.9204101562): SELECT livesite FROM jos_dp_categories WHERE id=10 AND published='1' LIMIT 1
157 (!!!!! 1008.0337524414): SELECT * FROM jos_deeppockets WHERE 1=1 AND id=294721019 AND published='1' union SELECT * FROM jos_deeppockets_archive WHERE 1=1 AND id=294721019 AND published='1' LIMIT 1
158 (399.11270141602): SELECT * FROM jos_deeppockets WHERE 1=1 AND id=294721019 AND published='1' union SELECT * FROM jos_deeppockets_archive WHERE 1=1 AND id=294721019 AND published='1' LIMIT 1
159 (874.99618530273): select jos_twitters.link from jos_twitters where cat=10
160 (!!!!! 3851.1753082275): select jos_facebook.link from jos_facebook where cat=10
161 (745.05805969238): select jos_google_plus.link from jos_google_plus where cat=10
162 (56.028366088867): select jos_linkedin.link from jos_linkedin where cat=10