[HTML][HTML] Navigating Genetic Testing in Nephrology: Options and Decision-Making Strategies

E Groopman, HM Rasouly - Kidney International Reports, 2024 - Elsevier
Technological advances such as next-generation sequencing (NGS) have enabled high-
throughput assessment of the human genome, supporting the usage of genetic testing as a …

Natural history and clinicopathological Associations of TRPC6-associated podocytopathy

B Wooden, A Beenken, E Martinelli… - Journal of the …, 2024 - journals.lww.com
Background: Understanding the genetic basis of human diseases has become integral to
drug development and precision medicine. Recent advancements have enabled the …

Genetics of Chronic Kidney Disease in Low-Resource Settings

T Ilori, A Watanabe, KH Ng, A Solarin, A Sinha… - Seminars in …, 2022 - Elsevier
Advances in kidney genomics in the past 20 years has opened the door for more precise
diagnosis of kidney disease and identification of new and specific therapeutic agents …

Estimation of the Age of the Kashubian‐Specific Pathogenic NPHS2 Variant Responsible for Hereditary Steroid‐Resistant Nephrotic Syndrome Points to Its Recent …

M Jankowski, P Daca-Roszak… - Human …, 2024 - Wiley Online Library
Steroid‐resistant nephrotic syndrome (SRNS) is a highly heterogenic kidney disorder
resulting from genetic abnormalities or immune system dysfunction affecting the …

Genetic stratification reveals COL4A variants and spontaneous remission in Egyptian children with proteinuria in the first 2 years of life

SA Elshafey, MAEH Thabet, RAH Abo Elwafa… - Acta …, 2023 - Wiley Online Library
Aim The earlier the onset of proteinuria, the higher the incidence of genetic forms. Therefore,
we aimed to analyse the spectrum of monogenic proteinuria in Egyptian children presenting …

Spectrum of Alport syndrome in an Indian cohort

M Yadav, T Jadon, G Singh, KG Devi, M Chandan… - Pediatric …, 2025 - Springer
Background Next-generation sequencing has enabled non-invasive diagnosis of type IV
collagen disease in clinical settings other than the typical presentation of Alport syndrome …

Noninvasive genetic testing for type IV collagen nephropathy using oral mucosa DNA sampling in children with haematuria

J Liu, D Zhou, X Wang, T Shen, C Wang, R Dai… - Renal …, 2024 - Taylor & Francis
Objective Hematuria is one of the most common conditions in children, and increase the risk
of chronic kidney disease. Persistent hematuria may be the earliest manifestation of type IV …

Pediatric tubular and inherited disorders in asia: results of preliminary survey of the asian pediatric nephrology association (aspna) tubular and inherited working …

LPR Resontoc, N Kandai, N Hooman… - Asian Journal of …, 2022 - journals.lww.com
Methods: Our group conducted an online survey among the members of AsPNA from
September to October 2020. Data collected included demographics, number of patients …

Factors predicting the occurrence of disease-causing variants on next-generation sequencing in children with steroid-resistant nephrotic syndrome—implications for …

A Kaur, AZ Banday, L Dawman, A Rawat… - Pediatric Nephrology, 2023 - Springer
Background Enhanced availability of high-throughput sequencing (at progressively reducing
costs) has revolutionized the identification of monogenic SRNS. However, in resource-poor …

Sindrom Nefrotik Monogenik: Pendekatan Klinis dan Diagnosis

R Fahlevi, PP Trihono, D Muktiarti, PA Wahidiyat… - Sari Pediatri, 2024 - saripediatri.org
Sindrom nefrotik merupakan penyakit ginjal yang sering ditemukan pada anak-anak,
dengan insiden 1-3 per 100.000 anak di bawah usia 16 tahun. Sekitar 10-20% anak dengan …