{"id":5431,"date":"2019-05-31T13:55:40","date_gmt":"2019-05-31T12:55:40","guid":{"rendered":"http:\/\/www.library.sath.nhs.uk\/research\/?p=5431"},"modified":"2021-03-09T09:58:05","modified_gmt":"2021-03-09T09:58:05","slug":"variable-clinical-presentations-of-renal-cyst-and-diabetes-rcad-syndrome-in-two-patients-2019","status":"publish","type":"post","link":"https:\/\/www.library.sath.nhs.uk\/research\/2019\/05\/31\/variable-clinical-presentations-of-renal-cyst-and-diabetes-rcad-syndrome-in-two-patients-2019\/","title":{"rendered":"Variable clinical presentations of renal cyst and diabetes (RCAD) syndrome in two patients (2019)"},"content":{"rendered":"<p><strong>Type of publication:<\/strong><br \/>\nConference abstract<\/p>\n<p><strong>Author(s):<\/strong><br \/>\n*Al-Salihi A.; *Kandaswamy L.; *Qamar S.; *Rangan S.; *Moulik P.; *Singh P.K.<\/p>\n<p><strong>Citation:<\/strong><br \/>\nDiabetic Medicine; Mar 2019; vol. 36 ; p. 86<\/p>\n<p><strong>Abstract:<\/strong><br \/>\nMaturity onset diabetes of the young Type 5 (MODY 5), known as RCAD syndrome, results from mutations in\u00a0the hepatocyte nuclear factor 1-beta (HNF1B), most commonly 17q12 deletion. We present two patients with\u00a0this syndrome: Patient 1: A 31 year old male presented with symptomatic hyperglycaemia. He was diagnosed\u00a0with diabetes three months previously and had been treated with a sulphonylurea. His past medical history\u00a0included deranged liver function tests (LFT), azoospermia and a single functioning dysplastic kidney. He had a\u00a0family history of diabetes in first-degree relatives. Genetic tests confirmed HNF1B heterozygous whole gene\u00a0deletion. Patient 2: A 34 year old male with diabetes diagnosed two years previously was referred for his<br \/>\ncomplex medical background. He had a history of renal problems (renal agenesis on right and cysts on left), gout and deranged LFT. His glycaemic control was adequate on Linagliptin monotherapy. Despite the absence of relevant family history, he has been referred for genetic testing.<br \/>\nDiscussion(s): RCAD syndrome comprises 2% of all cases of MODY and features renal cysts and diabetes\u00a0alongside a spectrum of other conditions such as renal dysplasia\/hypoplasia\/agenesis, reproductive tract\u00a0anomalies, psychiatric problems, deranged LFTs and other metabolic abnormalities in various combinations.\u00a0Genetic mutations can be inherited or sporadic. Absence of family history and variability in clinical\u00a0manifestations can lead to delayed recognition.<br \/>\nConclusion(s): Patients with RCAD syndrome can present with a varied combination of clinical features. Clinical suspicion, irrespective of family history, is key to diagnosis and management.<\/p>\n<p><a href=\"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/dme.21_13883\" target=\"_blank\" rel=\"noopener noreferrer\">Link to full-text<\/a><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Type of publication: Conference abstract Author(s): *Al-Salihi A.; *Kandaswamy L.; *Qamar S.; *Rangan S.; *Moulik P.; *Singh P.K. Citation: Diabetic Medicine; Mar 2019; vol. 36 ; p. 86 Abstract: Maturity onset diabetes of the young Type 5 (MODY 5), known<span class=\"ellipsis\">&hellip;<\/span><\/p>\n<div class=\"read-more\"><a href=\"https:\/\/www.library.sath.nhs.uk\/research\/2019\/05\/31\/variable-clinical-presentations-of-renal-cyst-and-diabetes-rcad-syndrome-in-two-patients-2019\/\">Read more <span class=\"screen-reader-text\">Variable clinical presentations of renal cyst and diabetes (RCAD) syndrome in two patients (2019)<\/span><span class=\"meta-nav\"> &#8250;<\/span><\/a><\/div>\n<p><!-- end of .read-more --><\/p>\n","protected":false},"author":12,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"content-type":"","footnotes":""},"categories":[200],"tags":[832,64,989,855,854,894],"class_list":["post-5431","post","type-post","status-publish","format-standard","hentry","category-staff-publication","tag-832","tag-diabetes","tag-endocrinology-and-diabetes","tag-liver","tag-renal","tag-renal-medicine"],"_links":{"self":[{"href":"https:\/\/www.library.sath.nhs.uk\/research\/wp-json\/wp\/v2\/posts\/5431","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.library.sath.nhs.uk\/research\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.library.sath.nhs.uk\/research\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.library.sath.nhs.uk\/research\/wp-json\/wp\/v2\/users\/12"}],"replies":[{"embeddable":true,"href":"https:\/\/www.library.sath.nhs.uk\/research\/wp-json\/wp\/v2\/comments?post=5431"}],"version-history":[{"count":1,"href":"https:\/\/www.library.sath.nhs.uk\/research\/wp-json\/wp\/v2\/posts\/5431\/revisions"}],"predecessor-version":[{"id":5476,"href":"https:\/\/www.library.sath.nhs.uk\/research\/wp-json\/wp\/v2\/posts\/5431\/revisions\/5476"}],"wp:attachment":[{"href":"https:\/\/www.library.sath.nhs.uk\/research\/wp-json\/wp\/v2\/media?parent=5431"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.library.sath.nhs.uk\/research\/wp-json\/wp\/v2\/categories?post=5431"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.library.sath.nhs.uk\/research\/wp-json\/wp\/v2\/tags?post=5431"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}