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Nail-patella syndrome with nephropathy in a de novo LMX1B mutation: triangular lunula of the thumb and lack of finger creases as clues

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Abstract

Nail-patella syndrome (NPS) is an autosomal dominant disease caused mostly by mutations in the LMX1B gene and is characterized by hypoplastic nails, hypoplastic patella, elbow deformities, glaucoma, and nephropathy, sometimes leading to kidney failure. The combination and the severity of symptoms vary greatly from patient to patient. Because a kidney biopsy may show nonspecific findings, patients with nephropathy alone may not be diagnosed without undergoing genetic testing. We examined the case of a 6-year-old girl with persistent high proteinuria who was not diagnosed by kidney biopsy but had a diagnosis of a de novo mutation in the LMX1B gene following genetic testing. Retrospectively, only the thumbs showed triangular lunulae, while the third and fourth fingers lacked skin creases over the distal interphalangeal joints, which is subtle but characteristic of NPS. Notifying pediatric nephrologists of these findings can help avoid unnecessary kidney biopsies and lead to early detection of the disease.

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Author information

Authors and Affiliations

  1. Department of Pediatrics, National Hospital Organization Saitama Hospital, Wako, Saitama, Japan

    Yoshinori Banno, Masako Ikemiyagi & Isamu Kamimaki

  2. Department of Nephrology and Rheumatology, Tokyo Metropolitan Children’s Medical Center, Tokyo, Japan

    Riku Hamada

  3. Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan

    Kandai Nozu

  4. Department of Pathology, Tokyo Metropolitan Children’s Medical Center, Tokyo, Japan

    Kentaro Matsuoka

  5. Division of Nephrology and Rheumatology, National Center for Child Health and Development, 2-10-1 Okura, Setagaya-Ku, Tokyo, 157-8535, Japan

    Yoshinori Banno

Authors
  1. Yoshinori Banno
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  2. Masako Ikemiyagi
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  3. Riku Hamada
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  4. Kandai Nozu
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  5. Kentaro Matsuoka
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  6. Isamu Kamimaki
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Contributions

Yoshinori Banno reviewed the details of the case, conceptualized, and mainly drafted the case report. Masako Ikemiyagi and Riku Hamada managed the patient’s care and contributed to the drafting and editing of this report. Kandai Nozu carried out genetic studies, evaluated the mutation, and interpreted the data. Kentaro Matsuoka was responsible for the pathology diagnosis. Isamu Kamimaki followed up with the patient in the outpatient setting and contributed to editing and checking the report prior to submission. All authors approved the final content.

Corresponding author

Correspondence to Yoshinori Banno.

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Ethics approval

This is a case report. The Research Ethics Committee of the National Hospital Organization Saitama Hospital has confirmed that no ethical approval is required.

Consent for publication

Written informed consent for publication of clinical details and clinical images was obtained from the patient’s parent.

Competing interests

Kandai Nozu is one of the section editors of Pediatric Nephrology. Other than this, the authors have no financial or non-financial interests to disclose.

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Banno, Y., Ikemiyagi, M., Hamada, R. et al. Nail-patella syndrome with nephropathy in a de novo LMX1B mutation: triangular lunula of the thumb and lack of finger creases as clues. Pediatr Nephrol (2024). https://doi.org/10.1007/s00467-024-06344-2

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  • DOI: https://doi.org/10.1007/s00467-024-06344-2

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