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Children
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Inherited Kidney Diseases in Children: Advances and Challenges
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Inherited Kidney Diseases in Children: Advances and Challenges

A special issue of Children (ISSN 2227-9067). This special issue belongs to the section "Pediatric Nephrology".

Deadline for manuscript submissions: closed (20 April 2024) | Viewed by 1035

Special Issue Editor

Dr. Vijay Gandhi Linga

E-Mail Website
Guest Editor
Pediatric Hospitalist, San Juan Regional Medical Center, Farmington, NM 87401, USA
Interests: pediatrics; AKI; epidemiology; preventive pediatrics; hospital pediatrics; vaccines

Special Issue Information

Dear Colleagues,

Injury to pediatric kidneys can be caused by varied etiologies. Around 10-60 per million children have chronic kidney diseases (CKD). Children with CKD progress towards end stage renal disease (ESRD). Inherited Kidney Diseases in children is the leading cause of ESRD. Inherited kidney Diseases affect different parts of the nephron, collecting system, or ureters. Some studies identify glomerulus as the most common etiology of inherited kidney diseases. In the present era, with the increasing use of genetic studies, nearly ¾ of cases have a known etiology or genetic defect. In nearly 40% of cases, genetic studies have helped with treatment decisions. As these diseases are managed by multi-disciplinary teams, specialists with varied expertise may contribute to this edition, including but not limited to epidemiologists, bench researchers, pediatricians, nephrologists, urologists, and genetics. For this Special Issue, I am inviting the submission of research papers, such as bench research, translational/bench-to-bedside research, clinical trials, review articles, interesting studies with outcomes, genetic counseling, supportive care/ palliative care, etc.

Dr. Vijay Gandhi Linga
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Children is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2400 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • inherited kidney diseases
  • genetic disorders of renal growth and structure -CAKUT and ciliopathies
  • inherited glomerular diseases
  • inherited proximal convoluted tubular diseases
  • inherited distal convoluted tubular and thick ascending tubular diseases
  • inherited collecting tubular diseases
  • supportive care for children with inherited chronic kidney diseases
  • genetics and palliative care in inherited kidney diseases

Published Papers (1 paper)

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Research

26 pages, 6856 KiB  
Article
Single-Center Experience of Pediatric Cystic Kidney Disease and Literature Review
by Sara Grlić, Viktorija Gregurović, Mislav Martinić, Maša Davidović, Ivanka Kos, Slobodan Galić, Margareta Fištrek Prlić, Ivana Vuković Brinar, Kristina Vrljičak and Lovro Lamot
Children 2024, 11(4), 392; https://0-doi-org.brum.beds.ac.uk/10.3390/children11040392 - 25 Mar 2024
Viewed by 732
Abstract
Introduction: Pediatric cystic kidney disease (CyKD) includes conditions characterized by renal cysts. Despite extensive research in this field, there are no reliable genetics or other biomarkers to estimate the phenotypic consequences. Therefore, CyKD in children heavily relies on clinical and diagnostic testing to [...] Read more.
Introduction: Pediatric cystic kidney disease (CyKD) includes conditions characterized by renal cysts. Despite extensive research in this field, there are no reliable genetics or other biomarkers to estimate the phenotypic consequences. Therefore, CyKD in children heavily relies on clinical and diagnostic testing to predict the long-term outcomes. Aim: A retrospective study aimed to provide a concise overview of this condition and analyze real-life data from a single-center pediatric CyKD cohort followed during a 12-year period. Methods and Materials: Medical records were reviewed for extensive clinical, laboratory, and radiological data, treatment approaches, and long-term outcomes. Results: During the study period, 112 patients received a diagnosis of pediatric CyKD. Male patients were more involved than female (1:0.93). Fifty-six patients had a multicystic dysplastic kidney; twenty-one of them had an autosomal dominant disorder; fifteen had an isolated renal cyst; ten had been diagnosed with autosomal recessive polycystic kidney disease; three had the tuberous sclerosis complex; two patients each had Bardet–Biedl, Joubert syndrome, and nephronophthisis; and one had been diagnosed with the trisomy 13 condition. Genetic testing was performed in 17.9% of the patients, revealing disease-causing mutations in three-quarters (75.0%) of the tested patients. The most commonly presenting symptoms were abdominal distension (21.4%), abdominal pain (15.2%), and oligohydramnios (12.5%). Recurrent urinary tract infections (UTI) were documented in one-quarter of the patients, while 20.5% of them developed hypertension during the long-term follow-up. Antibiotic prophylaxis and antihypertensive treatment were the most employed therapeutic modalities. Seventeen patients progressed to chronic kidney disease (CKD), with thirteen of them eventually reaching end-stage renal disease (ESRD). The time from the initial detection of cysts on an ultrasound (US) to the onset of CKD across the entire cohort was 59.0 (7.0–31124.0) months, whereas the duration from the detection of cysts on an US to the onset of ESRD across the whole cohort was 127.0 (33.0–141.0) months. The median follow-up duration in the cohort was 3.0 (1.0–7.0) years. The patients who progressed to ESRD had clinical symptoms at the time of initial clinical presentation. Conclusion: This study is the first large cohort of patients reported from Croatia. The most common CyKD was the multicystic dysplastic kidney disease. The most common clinical presentation was abdominal distention, abdominal pain, and oliguria. The most common long-term complications were recurrent UTIs, hypertension, CKD, and ESRD. Full article
(This article belongs to the Special Issue Inherited Kidney Diseases in Children: Advances and Challenges)
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