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Pediatric Nephrology: Advances in the Diagnosis and Management of Pediatric Kidney Disorders

A special issue of Journal of Clinical Medicine (ISSN 2077-0383). This special issue belongs to the section "Nephrology & Urology".

Deadline for manuscript submissions: 15 January 2026 | Viewed by 2329

Special Issue Editors

Dr. Agnieszka Rybi-Szumińska

E-Mail Website
Guest Editor
Department of Pediatrics and Nephrology, Medical University of Bialystok, 15-274 Białystok, Poland
Interests: kidney; nephrotic syndrome; hypertension; glomerulonephritis; kidney disease; acute kidney injury; chronic kidney disease
Prof. Dr. Anna Maria Wasilewska

E-Mail Website
Guest Editor
Pediatric & Nephrology Department, Medical University of Bialystok, Bialystok, Poland
Interests: nephrotic syndrome; acute renal injury; hypertension
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Pediatric kidney disorders refer to various conditions, sudden or chronic, including congenital abnormalities of the kidney and urinary tract, glomerulopathies, or tubulo-interstitial diseases. They may have different background, but nevertheless, most are at risk of chronic kidney disease. That is why achieving the right diagnosis, enabling early interventions, is crucial.

Advances in diagnosing and the further management of kidney diseases in the pediatric population have significantly improved outcomes. One of the major developments is the search for biomarkers, which are useful in the early diagnosis and treatment of kidney problems. What is more, these potential biomarkers seem to have moved from research to clinical use, aiding in the early detection and monitoring of several kidney diseases, especially acute kidney injury. Additionally, but also extremely important in inherited kidney disease diagnosis, is genetic testing. This may allow for the early and precise identification of specific genetic abnormalities and, in some cases, more personalized management plans.

As for the management of kidney diseases, we have observed the development of new biologics and immunosuppressants introduced for the therapy of conditions related to nephrotic and nephritic syndromes. RNA interference therapies help to effectively treat rare diseases. In renal replacement therapy there are improved dialysis machines for newborns and preterm infants. We have all witnessed emerging technologies, like bioengineering and artificial intelligence, that have begun to impact clinical practice.

This advancements collectively highlight the importance of integrating genetic tools, new kidney biomarkers, and innovative therapies to optimize treatment for children with kidney diseases. This Special Issue seeks contributions elucidating mechanistic insights, diagnostic innovations, and therapeutic advances in pediatric nephrology. Submissions of reviews and original research articles are invited, with particular emphasis on the interdisciplinary integration of molecular diagnostics, biomarker science, and precision therapeutics.

Dr. Agnieszka Rybi-Szumińska
Prof. Dr. Anna Maria Wasilewska
Guest Editors

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 250 words) can be sent to the Editorial Office for assessment.

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. Journal of Clinical Medicine is an international peer-reviewed open access semimonthly 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 2600 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

  • diagnosis
  • management
  • treatment
  • kidney disorders
  • chronic kidney disease
  • biomarkers
  • genetic testing
  • kidney
  • children
  • newborn

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Published Papers (3 papers)

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Research

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13 pages, 941 KB  
Article
Total Kidney Volume, Hypertension, and Deterioration of Kidney Function in Children with Early-Stage ADPKD
by Agnieszka Turczyn, Grażyna Krzemień, Dominik Nguyen and Katarzyna Smyk
J. Clin. Med. 2025, 14(13), 4498; https://doi.org/10.3390/jcm14134498 - 25 Jun 2025
Viewed by 1032
Abstract
Background: Several studies have shown that total kidney volume (TKV) measurements may serve as a non-invasive imaging biomarker for monitoring and predicting the progression of autosomal dominant polycystic kidney disease (ADPKD) in children. Methods: This study aimed to evaluate the relationship between [...] Read more.
Background: Several studies have shown that total kidney volume (TKV) measurements may serve as a non-invasive imaging biomarker for monitoring and predicting the progression of autosomal dominant polycystic kidney disease (ADPKD) in children. Methods: This study aimed to evaluate the relationship between height-adjusted TKV (htTKV), estimated glomerular filtration rate (GFR), and blood pressure, assessed using 24 h ambulatory blood pressure monitoring (ABPM), in children with early-stage ADPKD. The study was conducted with 72 children, mean age 12.46 ± 3.76 (5.42–17.92). Results: Hypertension (HT) was diagnosed in (20) 28% of children. ABPM allowed the identification of previously undiagnosed HT in 12 (16.7%) children. Decreased GFR was demonstrated in 10 (14%) children, and hyperfiltration in 5 (7%) children. Significantly higher htTKV and calculated TKV z-score and more frequent decreases in GFR were observed in hypertensive children (p = 0.018; 0.020 and 0.010, respectively). The study demonstrated a significant inverse correlation between htTKV and GFR (r −0.25; p = 0.032). The TKV z-score showed a very good correlation with all ABPM parameters, except for DBP and DBP z-score during the day. Receiver operating curve (ROC) analysis showed that htTKV and TKV z-score had good diagnostic value for predicting a decline in GFR (AUC 0.808, p < 0.001), but were not useful for predicting the onset of HT (AUC 0.697, p = 0.010). Conclusions: There is a relationship between TKV, GFR, and blood pressure parameters in children with early-stage ADPKD. The TKV z-score can be useful for predicting GFR decline. Children with ADPKD and increasing TKV require careful blood pressure monitoring. Full article
(This article belongs to the Special Issue Pediatric Nephrology: Advances in the Diagnosis and Management of Pediatric Kidney Disorders)
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Review

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21 pages, 1721 KB  
Review
Kidneys in Children with Tuberous Sclerosis Complex—An Up-to-Date Review
by Anna Maria Wabik, Jakub Pytlos, Aneta Michalczewska and Piotr Skrzypczyk
J. Clin. Med. 2025, 14(21), 7805; https://doi.org/10.3390/jcm14217805 - 3 Nov 2025
Viewed by 715
Abstract
Background: Tuberous sclerosis complex (TSC) is a rare genetic disorder characterized by the growth of benign tumors in various organ systems, with particularly significant effects on the kidneys. Renal manifestations of TSC include angiomyolipomas (AMLs), renal cysts, and a higher risk of [...] Read more.
Background: Tuberous sclerosis complex (TSC) is a rare genetic disorder characterized by the growth of benign tumors in various organ systems, with particularly significant effects on the kidneys. Renal manifestations of TSC include angiomyolipomas (AMLs), renal cysts, and a higher risk of renal cell carcinoma (RCC). Nephrological monitoring is crucial for the early detection of kidney changes, the management of hypertension, and the assessment of the risk of developing chronic kidney disease. Ultrasound is typically the initial imaging choice for diagnosis and monitoring, with magnetic resonance imaging (MRI) being a preferred imaging modality for long-term surveillance. Patients with TSC have an increased risk of arterial hypertension, renal artery stenosis, and urolithiasis. In some patients, the co-occurrence of TSC and autosomal dominant polycystic kidney disease (ADPKD) is caused by the TSC2/PKD1 contiguous gene syndrome (CGS). The primary medical treatment for TSC is a mammalian target of rapamycin kinase inhibitors (mTOR), as they effectively shrink tumors, often reducing or eliminating the need for surgical intervention. Methods: This article aims to review the most recent literature on the diagnosis and management of renal lesions in tuberous sclerosis complex (TSC), with a particular focus on the role of various imaging techniques. Conclusions: Given the multifactorial nature of this disease, this review emphasizes the importance of a multidisciplinary approach, including various imaging methods, to improve the care and treatment outcomes of children with tuberous sclerosis complex. Full article
(This article belongs to the Special Issue Pediatric Nephrology: Advances in the Diagnosis and Management of Pediatric Kidney Disorders)
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Other

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8 pages, 383 KB  
Case Report
Nephrocalcinosis in a Child with Sotos Syndrome: A Case Report of Contiguous Gene Syndrome Encompassing NSD1 and SLC34A1 Genes
by Agnieszka Bargenda-Lange, Anna Jakubowska, Anna Medyńska, Jan Bajtek, Robert Śmigiel and Katarzyna Kiliś-Pstrusińska
J. Clin. Med. 2025, 14(22), 8200; https://doi.org/10.3390/jcm14228200 - 19 Nov 2025
Viewed by 239
Abstract
Background: Nephrocalcinosis, characterized by the deposition of calcium salts within the renal parenchyma, is frequently identified incidentally in pediatric patients and may be associated with underlying genetic disorders. Sotos syndrome, a rare congenital overgrowth condition associated with neurodevelopment delay and congenital defects [...] Read more.
Background: Nephrocalcinosis, characterized by the deposition of calcium salts within the renal parenchyma, is frequently identified incidentally in pediatric patients and may be associated with underlying genetic disorders. Sotos syndrome, a rare congenital overgrowth condition associated with neurodevelopment delay and congenital defects caused by mutations or deletions in the NSD1 gene, has been sporadically linked to renal abnormalities, including nephrocalcinosis. Clinical presentation: We report a case of a male patient with Sotos syndrome and concurrent nephrocalcinosis, in whom genetic analysis revealed a microdeletion of chromosome 5q35 with a 2.2 Mb deletion encompassing both NSD1 and SLC34A1 genes. The SLC34A1 gene encodes the NaPi-IIa sodium–phosphate cotransporter, essential for phosphate reabsorption in the renal proximal tubule. Haploinsufficiency of SLC34A1 is implicated in dysregulated phosphate and calcium homeostasis, predisposing to hypercalciuria and nephrocalcinosis. Longitudinal follow-up demonstrated biochemical stability, resolution of nephrocalcinosis, and preserved renal function, supporting the hypothesis of an age-dependent attenuation in NaPi-IIa function. Conclusions: This case underscores the relevance of contiguous gene deletions in shaping complex clinical phenotypes and highlights the importance of early wide clinical screening in patients with Sotos syndrome to mitigate long-term renal complications. Full article
(This article belongs to the Special Issue Pediatric Nephrology: Advances in the Diagnosis and Management of Pediatric Kidney Disorders)
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