Skip to content
DraconiticResearch
Search Sources API
203,203 studies31 sourcesUpdated 39 min ago
Peer-reviewedCC BY 4.0Case Reports in Transplantation

Living Kidney Transplantation in a Patient With End‐Stage Kidney Disease Due to Rare Juvenile Nail‐Patella‐Like Renal Disease Without LMX1B Mutation

  • Tomota Okabe1
  • Yuki Nakajima1
  • Kengo Iwatsuki1
  • Ryoichi Maenosono1
  • Takuya Matsuda1
  • Shuya Tsuchida1
  • Takaki Hanamori1
  • Yuya Fujiwara2
  • Keita Nakamori1,3
  • Tomohisa Matsunaga1,3
  • Yuki Yoshikawa1
  • Takuya Tsujino1
4 more authors
  • Hideki Matsumura4
  • Hayahito Nomi5
  • Akira Ashida4
  • Haruhito Azuma1,3
5 affiliations
  1. 1Department of Urology Osaka Medical and Pharmaceutical University Takatsuki Osaka Japan ompu.ac.jp
  2. 2Department of Urology Moriguchi Keijinkai Hospital Moriguchi Osaka Japan dlut.edu.cn
  3. 3Blood Purification Center Osaka Medical and Pharmaceutical University Hospital Takatsuki Osaka Japan
  4. 4Department of Pediatrics Osaka Medical and Pharmaceutical University Takatsuki Osaka Japan ompu.ac.jp
  5. 5Department of Urology Osaka Medical and Pharmaceutical University Mishima-Minami Hospital Takatsuki Osaka Japan dlut.edu.cn
Read full textPDFDOICite

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.

Related

  1. Severe Brain Atrophy after Allogeneic Hematopoietic Stem Cell Transplantation in a Patient Suffering from Chronic Graft-versus-host Disease
    Yasutaka Masuda, Akira Honda, Reo Yoshioka +4
    Internal MedicinePeer-reviewedCC BY-NC-NDFull textGeneral medicineJ-STAGE
  2. Survival and reactivation risk after heart transplantation in Chagas heart disease: a systematic review and individual patient data meta-analysis
    Zhi-hao Song, Guzinayi Abudukadi, Rong-Dong He +12
    Frontiers in Cardiovascular MedicinePeer-reviewedCC BY 4.0Full textEpidemiology & public healthCrossref
  3. Early Patient-Reported Outcomes and Graft-Versus-Host Disease as Indicators of Long-Term Quality of Life and Fatigue After Allogeneic Hematopoietic Stem Cell Transplantation: A 24-Month Prospective Study
    Gabriela Lampart, Sebastian Klich, Agnieszka Gniadek +1
    CancersPeer-reviewedCC BY 4.0OncologyCrossref
  4. Liver Transplantation for HBV ‐Related Disease in France: NUC Type Before LT Is Associated With Patient Survival
    Isaure Bienvenue, Olivier Roux, Audrey Coilly +26
    Liver -Copenhagen-Peer-reviewedCC BY 4.0Full textEpidemiology & public healthHAL
  5. Adult-sourced fecal microbiota transplantation ameliorates early-life antibiotic-induced intestinal immune stress in juvenile mice associated with the modulation of the TLR4/MyD88 signaling pathway
    Xiang Qian, Yanjing Shen, Xianzhong Luo +4
    PLOS OnePeer-reviewedCC BY 4.0Full textPhysiologyPLOS

Cite

BibTeXRIS
BibTeX
@article{okabe2026living,
  title = {{Living Kidney Transplantation in a Patient With End‐Stage Kidney Disease Due to Rare Juvenile Nail‐Patella‐Like Renal Disease Without LMX1B Mutation}},
  author = {Tomota Okabe and Yuki Nakajima and Kengo Iwatsuki and Ryoichi Maenosono and Takuya Matsuda and Shuya Tsuchida and Takaki Hanamori and Yuya Fujiwara and Keita Nakamori and Tomohisa Matsunaga and Yuki Yoshikawa and Takuya Tsujino and Hideki Matsumura and Hayahito Nomi and Akira Ashida and Haruhito Azuma},
  journal = {Case Reports in Transplantation},
  year = {2026},
  month = oct,
  doi = {10.1155/crit/3745524},
  url = {https://doi.org/10.1155/crit/3745524},
  note = {CC BY 4.0},
}
RIS
TY  - JOUR
TI  - Living Kidney Transplantation in a Patient With End‐Stage Kidney Disease Due to Rare Juvenile Nail‐Patella‐Like Renal Disease Without LMX1B Mutation
AU  - Tomota Okabe
AU  - Yuki Nakajima
AU  - Kengo Iwatsuki
AU  - Ryoichi Maenosono
AU  - Takuya Matsuda
AU  - Shuya Tsuchida
AU  - Takaki Hanamori
AU  - Yuya Fujiwara
AU  - Keita Nakamori
AU  - Tomohisa Matsunaga
AU  - Yuki Yoshikawa
AU  - Takuya Tsujino
AU  - Hideki Matsumura
AU  - Hayahito Nomi
AU  - Akira Ashida
AU  - Haruhito Azuma
PY  - 2026
DA  - 2026/10/31
JO  - Case Reports in Transplantation
DO  - 10.1155/crit/3745524
UR  - https://doi.org/10.1155/crit/3745524
AB  - 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.
SN  - 2090-6943
SN  - 2090-6951
ER  -