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Systemic hydroa vacciniforme lymphoproliferative disorder in a patient with chronic active EBV infection.
BMJ 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 PDFAssessing masked hypertension and ambulatory arterial stiffness index in children congenital kidney malformations.
Clin 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.
Challenging the narrative of alport syndrome spectrum: no link with cystic phenotype.
Nephrol Dial Transplant
December 2024
Centre de Néphrologie et transplantation rénale, Assistance publique-Hôpitaux de Marseille, La Conception Hospital, Marseille, France.
Background: Alport Syndromes (AS) are the second leading genetic cause of Kidney Failure (KF). Whether multiple kidney cysts (MKC) phenotype belongs to the AS spectrum remains debated.
Methods: This multicenter retrospective study focused on patients genotyped with pathogenic COL4A3, COL4A4, or COL4A5 variants (classified as ACMG-AMP 4 or 5) between January 2011 and January 2023 across four French university hospitals.
Prenatal diagnosis of left multicystic dysplastic kidney (MCDK) and ureterocele was made in a male fetus at 24-week gestation. The initial postnatal course was uneventful. At 4 weeks of age, he developed urosepsis and respiratory distress.
View Article and Find Full Text PDFSupporting Infants with Multicystic Dysplastic Kidney Disease: A Comprehensive Approach.
Neonatal Netw
October 2024
Multicystic dysplastic kidney (MCDK) is a congenital renal disease characterized by variable-sized noncommunicative cysts, impeding parenchymal development and functionality. Renal capabilities are relative to the functionality of the contralateral kidney and response to management. Unilateral and isolated cases are often asymptomatic with more positive outcomes, while severe bilateral derangements have a high mortality rate.
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