Diversity of renal phenotypes in patients withWDR19mutations: Two case reports

Autor:	Noriko Sugawara, Michio Nagata, Takako Yoshioka, Osamu Miyazaki, Shuichi Ito, Kenji Ishikura, Mai Sato, Hiroko Nagata, Yuko Hamasaki, Shuji Kondo, Masao Ogura, Kiyonobu Ishizuka, Kazumoto Iijima, Seiichiro Shishido, Koichi Kamei, Kentaro Ogata, Ken Saida, Naoya Morisada, Maki Urushihara, Takahisa Yoshikawa
Rok vydání:	2017
Předmět:	0301 basic medicine Pathology medicine.medical_specialty Kidney Caroli disease business.industry General Medicine 030105 genetics & heredity medicine.disease Compound heterozygosity Ciliopathies Autosomal Recessive Polycystic Kidney Disease Sensenbrenner syndrome 03 medical and health sciences Ciliopathy 030104 developmental biology medicine.anatomical_structure Nephrology Nephronophthisis Medicine business
Zdroj:	Nephrology. 22:566-571
ISSN:	1320-5358
Popis:	WDR19 has been reported as a causative gene of nephronophthisis-related ciliopathies. Patients with WDR19 mutations can show various extrarenal manifestations such as skeletal disorders, Caroli disease, and retinal dystrophy, and typically display nephronophthisis as a renal phenotype. However, there is limited information on the renal phenotypes of patients with WDR19 mutations. We report two Japanese infants with Sensenbrenner syndrome caused by WDR19 mutations who demonstrated different features in renal ultrasound and histopathological results, despite several common extrarenal manifestations. Patient 1 had normal sized and hyperechogenic kidneys with several small cysts and histopathological findings compatible with infantile nephronophthisis. Renal ultrasound of Patient 2 showed enlarged kidneys with diffuse microcysts resembling those of autosomal recessive polycystic kidney disease. Her renal histopathology revealed dysplastic kidney with diffuse glomerular cysts. Genetic testing identified compound heterozygous mutations in WDR19 in both patients (Patient 1: c.953delA, c.3533G > A, Patient 2: c.2645 + 1G > T, c.3533G > A). Our patients suggest that WDR19 mutations can cause dysplastic kidney in addition to nephronophthisis pathologically. In addition, differences in pathology of the kidneys from WDR19 mutations may result in heterogeneous features in renal ultrasound findings. Renal phenotypes from WDR19 mutations may thus be more diverse than previously reported. Extrarenal manifestations and genetic testing can therefore help to diagnosis this disease more precisely.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::6febf9bc064ced63709039f1c8378981 https://doi.org/10.1111/nep.12996 Zobrazit plný text záznamu Plný text ve formátu PDF Plný text ve formátu HTML
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