Khandelwal MH, Piparva KG, Parchwani D. Familial WT1-associated nephropathy - 46, XY Frasier syndrome and 46, XX steroid-resistant nephrotic syndrome in female siblings: A case report and review of literature. World J Nephrol 2026; 15(1): 110867 [DOI: 10.5527/wjn.v15.i1.110867]
Corresponding Author of This Article
Deepak Parchwani, PhD, Professor, Department of Biochemistry, All India Institute of Medical Sciences, AIIMS Rajkot, Village Khandheri, Tehsil Paddhari, Rajkot 360001, Gujarāt, India. hodbiochem@aiimsrajkot.edu.in
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Biochemistry & Molecular Biology
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Case Report
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Mar 25, 2026 (publication date) through Mar 14, 2026
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World Journal of Nephrology
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Khandelwal MH, Piparva KG, Parchwani D. Familial WT1-associated nephropathy - 46, XY Frasier syndrome and 46, XX steroid-resistant nephrotic syndrome in female siblings: A case report and review of literature. World J Nephrol 2026; 15(1): 110867 [DOI: 10.5527/wjn.v15.i1.110867]
World J Nephrol. Mar 25, 2026; 15(1): 110867 Published online Mar 25, 2026. doi: 10.5527/wjn.v15.i1.110867
Familial WT1-associated nephropathy - 46, XY Frasier syndrome and 46, XX steroid-resistant nephrotic syndrome in female siblings: A case report and review of literature
Mahipal H Khandelwal, Kiran G Piparva, Deepak Parchwani
Mahipal H Khandelwal, Pediatric Nephrology, B.T. Savani Kidney Hospital, Rajkot 360005, Gujarāt, India
Kiran G Piparva, Department of Pharmacology, All India Institute of Medical Sciences, Rajkot 360001, Gujarāt, India
Deepak Parchwani, Department of Biochemistry, All India Institute of Medical Sciences, Rajkot 360001, Gujarāt, India
Co-first authors: Mahipal H Khandelwal and Kiran G Piparva.
Author contributions: Khandelwal MH and Piparva KG contributed equally to this manuscript and are co-first authors. Khandelwal MH contributed to diagnosis, case identification acquisition of clinical data, interpretation of clinical findings, clinical management, resource coordination, supervision, and final approval of the manuscript; Piparva KG and Parchwani D contributed to the literature review; Piparva KG contributed to conceptualization, wrote the original draft and revision; Parchwani D contributed to oversight, activity planning and execution, critical evaluation and preparation of final version of manuscript for submission.
Informed consent statement: Written informed consent was obtained from the patient for publication of this report and any accompanying images.
Conflict-of-interest statement: All the authors report no relevant conflicts of interest for this article.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Corresponding author: Deepak Parchwani, PhD, Professor, Department of Biochemistry, All India Institute of Medical Sciences, AIIMS Rajkot, Village Khandheri, Tehsil Paddhari, Rajkot 360001, Gujarāt, India. hodbiochem@aiimsrajkot.edu.in
Received: June 20, 2025 Revised: July 28, 2025 Accepted: January 6, 2026 Published online: March 25, 2026 Processing time: 269 Days and 14.3 Hours
Core Tip
Core Tip: This report describes two siblings with identical pathogenic Wilms tumor 1 but distinct karyotypes (46, XY and 46, XX) leading to divergent clinical presentations. The elder sibling had classical features with early-onset steroid-resistant nephrotic syndrome with rapidly deteriorating renal function, while the younger sibling presented with steroid-resistant nephrotic syndrome only without gonadal abnormalities. This rare familial occurrence emphasizes sex-dependent phenotypic variability despite identical mutations, expanding understanding of Wilms tumor 1-related disorders. The findings underscore the importance of genetic testing, detailed family evaluation, and long-term monitoring to guide management in such rare syndromic presentations.
