{
  "abstract": "Nail‐patella syndrome (NPS) is a rare disease characterized by fingernail dysplasia, patellar dysplasia, elbow deformities, and iliac horns, with a prevalence of 1 in 50,000 children. Most cases are caused by LMX1B mutations. Approximately 10%–40% of patients with NPS develop renal dysfunction in early childhood, whereas approximately 30% progress to end‐stage renal disease (ESRD). In addition, a few reports describe NPS without LMX1B mutations, but the mechanism affecting renal function is still unclear. In particular, nail‐patella‐like renal disease (NPLRD) presents solely with nephropathy without the physical changes that are characteristic of NPS. Herein, we report a case of clinicopathological NPLRD with characteristic NPS findings on electron microscopy but without physical features or LMX1B mutation, as confirmed by whole exome sequencing. The patient subsequently progressed to ESRD and underwent living‐related kidney transplantation. Seven years posttransplantation, no renal function‐related events occurred, and the patient returned to social activities without complications.",
  "abstract_shown": true,
  "affiliations": [
    "Department of Urology Osaka Medical and Pharmaceutical University Takatsuki Osaka Japan ompu.ac.jp",
    "Department of Urology Moriguchi Keijinkai Hospital Moriguchi Osaka Japan dlut.edu.cn",
    "Blood Purification Center Osaka Medical and Pharmaceutical University Hospital Takatsuki Osaka Japan",
    "Department of Pediatrics Osaka Medical and Pharmaceutical University Takatsuki Osaka Japan ompu.ac.jp",
    "Department of Urology Osaka Medical and Pharmaceutical University Mishima-Minami Hospital Takatsuki Osaka Japan dlut.edu.cn"
  ],
  "article_type": "case study",
  "arxiv": null,
  "author_total": 16,
  "authors": [
    {
      "affs": [
        0
      ],
      "name": "Tomota Okabe",
      "orcid": "0009-0007-2338-5678"
    },
    {
      "affs": [
        0
      ],
      "name": "Yuki Nakajima"
    },
    {
      "affs": [
        0
      ],
      "name": "Kengo Iwatsuki"
    },
    {
      "affs": [
        0
      ],
      "name": "Ryoichi Maenosono",
      "orcid": "0000-0002-9045-5484"
    },
    {
      "affs": [
        0
      ],
      "name": "Takuya Matsuda"
    },
    {
      "affs": [
        0
      ],
      "name": "Shuya Tsuchida"
    },
    {
      "affs": [
        0
      ],
      "name": "Takaki Hanamori"
    },
    {
      "affs": [
        1
      ],
      "name": "Yuya Fujiwara"
    },
    {
      "affs": [
        0,
        2
      ],
      "name": "Keita Nakamori",
      "orcid": "0009-0008-5015-7694"
    },
    {
      "affs": [
        0,
        2
      ],
      "name": "Tomohisa Matsunaga",
      "orcid": "0000-0001-5238-2598"
    },
    {
      "affs": [
        0
      ],
      "name": "Yuki Yoshikawa",
      "orcid": "0000-0001-8834-5051"
    },
    {
      "affs": [
        0
      ],
      "name": "Takuya Tsujino",
      "orcid": "0000-0003-1559-1889"
    },
    {
      "affs": [
        3
      ],
      "name": "Hideki Matsumura",
      "orcid": "0000-0001-6395-5689"
    },
    {
      "affs": [
        4
      ],
      "name": "Hayahito Nomi",
      "orcid": "0000-0002-9985-5759"
    },
    {
      "affs": [
        3
      ],
      "name": "Akira Ashida",
      "orcid": "0000-0001-5972-946X"
    },
    {
      "affs": [
        0,
        2
      ],
      "name": "Haruhito Azuma",
      "orcid": "0000-0001-5497-1679"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/1p7k6mq6bcpzy.bib",
  "cited_by": 0,
  "doi": "10.1155/crit/3745524",
  "fulltext_url": "https://pmc.ncbi.nlm.nih.gov/articles/PMC13723008/",
  "id": "1p7k6mq6bcpzy",
  "issns": [
    "2090-6943",
    "2090-6951"
  ],
  "landing_url": "https://doi.org/10.1155/crit/3745524",
  "language": "en",
  "licence": "CC-BY-4.0",
  "licence_label": "CC BY 4.0",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "heading",
      "Article"
    ],
    [
      "heading",
      "Case Report"
    ],
    [
      "openalex",
      "2747|Renal Transplantation Outcomes and Treatments"
    ]
  ],
  "openalex": "W7224992458",
  "pdf_url": "https://onlinelibrary.wiley.com/doi/pdfdirect/10.1155/crit/3745524",
  "pmcid": "PMC13723008",
  "pmid": "42967095",
  "published": "2026-10-31",
  "publisher": "Wiley",
  "ris": "https://research.draconitic.com/paper/1p7k6mq6bcpzy.ris",
  "sources": [
    {
      "first_seen": "2026-11-04T12:21:42Z",
      "native_id": "PMC13723008",
      "source": "pmc",
      "url": "https://doi.org/10.1155/crit/3745524"
    }
  ],
  "subjects": [
    {
      "field": "medicine",
      "origin": "openalex:2747|Renal Transplantation Outcomes and Treatments",
      "subfield": "surgery"
    }
  ],
  "title": "Living Kidney Transplantation in a Patient With End‐Stage Kidney Disease Due to Rare Juvenile Nail‐Patella‐Like Renal Disease Without LMX1B Mutation",
  "title_text": "Living Kidney Transplantation in a Patient With End‐Stage Kidney Disease Due to Rare Juvenile Nail‐Patella‐Like Renal Disease Without LMX1B Mutation",
  "type": "peer-reviewed",
  "updated_at": "2026-11-04T12:21:42Z",
  "url": "https://research.draconitic.com/paper/1p7k6mq6bcpzy",
  "venue": "Case Reports in Transplantation",
  "versions": []
}