The association of a blind ureter with dysplastic kidney and ureterocele is known in children but are in adults. This paper presents one case, and provides simple diagnostic clues which help to recognize the malformation.
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J Am Soc Nephrol
January 2025
Renal Division, Department of Internal Medicine, Xin Hua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200092, China.
Background: Many congenital anomalies of the kidney and urinary tract involve deficits in the number of nephrons, which are associated with a higher risk of hypertension and chronic kidney disease later in life. Prior work has implicated histone modifications in regulating kidney lineage-specific gene transcription and nephron endowment. Our earlier study suggested that ASH2L, a core subunit of the H3K4 methyltransferase complex, plays a role in ureteric bud morphogenesis during mammalian kidney development.
View Article and Find Full Text PDFMedicina (Kaunas)
November 2024
Department of Anatomy and Embryology, "Iuliu Hatieganu" University of Medicine and Pharmacy, 400012 Cluj-Napoca, Romania.
Müllerian (paramesonephric) duct anomalies (MDA) are a rare condition, occurring in 5.5% of female newborns. One of the most complex malformations is represented by Obstructed Hemivagina and Ipsilateral Renal Anomalies (OHVIRA) syndrome, also known as Herlyn -Werner-Wunderlich (HWW) syndrome.
View Article and Find Full Text PDFBMJ Case Rep
December 2024
Dermatology, Case Western Reserve University School of Medicine, Cleveland, Ohio, USA
Hydroa vacciniforme lymphoproliferative disorders (HVLPD) fall within the clinical spectrum of chronic active epstein barr virus (EBV) disease (CAEBVD), ranging from localised and/or indolent forms (classic HVLPD) to systemic disease with fever, hepatosplenomegaly and lymphadenopathy (systemic HVLPD). A preadolescent male with 47XYY, multicystic dysplastic kidney, autism spectrum disorder and Attention-deficit/hyperactivity disorder (ADHD) presented with photodistributed non-pruritic, non-painful necrotic papulovesicles accompanied by non-febrile intermittent fatigue and lymphadenopathy. The patient had a history of EBV pneumonia in infancy confirmed by CT scan and was later diagnosed with CAEBV.
View Article and Find Full Text PDFClin Genet
December 2024
Department of Medical Genetics, Basaksehir Cam and Sakura City Hospital, Istanbul, Turkey.
Renal ciliopathies are a genetically and phenotypically heterogeneous group of diseases characterized by cystic and dysplastic kidneys. The aim of this study was to investigate the correlation between genetic changes that cause renal ciliopathies and phenotypic outcomes. The study group consisted of 137 patients diagnosed with renal ciliopathy disease.
View Article and Find Full Text PDFClin Exp Nephrol
December 2024
Department of Pediatric Nephrology, Ulus Maternity and Child Health and Diseases Training and Research Hospital, Dr. Sami, Ankara, Turkey.
Background: Patients diagnosed with congenital kidney malformations are at an increased risk of developing hypertension, proteinuria, and progressing to chronic kidney disease (CKD). The present study aimed to determine the frequency of masked hypertension and ambulatory arterial stiffness index (AASI) in patients with congenital kidney malformations.
Methods: The study included 174 patients with congenital kidney malformations (48 patients with unilateral renal agenesis (URA), 40 patients with ectopic kidney (EK), 36 patients with horseshoe kidney (HK), 31 patients with multicystic dysplastic kidney (MCDK), 19 patients with unilateral renal hypoplasia (URH), and 45 healthy controls.
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