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Published on: May 6, 2018
Steroid-sensitive nephrotic syndrome in two families
Osamu Motoyama1, Hidenori Sugawara2, Michihiro Hatano2
1Department of Pediatrics, Toho University Medical Center, Sakura Hospital, 564-1 Shimoshizu, Sakura-shi, Chiba, 285-8741, Japan. motoyan@basil.ocn.ne.jp.
Familial steroid-sensitive nephrotic syndrome (SSNS) cases are rare. This study presents four cases in two Japanese families, including siblings and a father-daughter pair, highlighting the genetic component of SSNS.
Area of Science:
- Pediatric Nephrology
- Genetics
- Internal Medicine
Background:
- Steroid-sensitive nephrotic syndrome (SSNS) is a common kidney disease in children.
- Familial occurrence of SSNS is infrequently reported, suggesting a potential genetic predisposition.
- Understanding genetic factors is crucial for diagnosing and managing SSNS.
Observation:
- This study identified four pediatric cases of SSNS within two distinct families in Japan.
- Affected individuals included a pair of sisters and a father-daughter duo.
- The observed familial clustering suggests a hereditary component in SSNS development.
Findings:
- The incidence of SSNS among siblings in Japan appears comparable to international reports.
- The occurrence of SSNS across two generations (parent-child) is a rare phenomenon.
- This report documents the first known cases of parent-child SSNS in Japan.
Implications:
- These findings underscore the importance of considering genetic factors in pediatric SSNS.
- Further research into the genetic basis of SSNS may reveal novel diagnostic and therapeutic targets.
- Identifying familial SSNS cases can aid in early detection and management within at-risk families.
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