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Multinucleated podocytes as a clue to diagnosis of juvenile nephropathic cystinosis

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Abstract

Background  

Cystinosis is a rare autosomal recessive lysosomal disorder that mainly affects the kidney and eye. Early treatment with cysteamine significantly improves the prognosis. However, early diagnosis of cystinosis, especially the juvenile nephropathic form, remains challenging because typical symptoms only become apparent in adulthood. We herein describe a 13-year-old girl who presented with proteinuria only but was diagnosed with juvenile nephropathic cystinosis based on multinucleated podocytes in her kidney biopsy specimen. We also studied the nephropathology of another case to determine the features of the multinucleated podocytes.

Case diagnosis

A previously healthy 13-year-old girl presented to our hospital because proteinuria had been detected in her school urine screening. She had been noted to have proteinuria on her school urine screening when she was 11 years of age but there was no consultation with her physician at that time. She was asymptomatic and had no other abnormalities on examination other than a relatively high urinary β-2 microglobulin level. Her kidney biopsy showed 15 multinucleated podocytes in 34 glomeruli, and the mean number of nuclei per multinucleated podocyte was 4.4. Ophthalmological examination showed cystine crystals in her cornea. Her white blood cell cystine level was high, and she was diagnosed with juvenile nephropathic cystinosis. She started oral cysteamine treatment and showed almost no progression of the disease after 2 years. In another patient with juvenile nephropathic cystinosis, there were 25 multinucleated podocytes in 63 glomeruli, and the mean number of nuclei per multinucleated podocyte was 2.9.

Conclusion

Early diagnosis is crucial to improve the prognosis of patients with cystinosis. This report emphasizes the importance of recognizing the unique pathological feature of multinucleated podocytes as an essential clue to the diagnosis of cystinosis.

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Acknowledgements

We thank Angela Morben, DVM, ELS, from Edanz (http://jp.edanz.com/ac) for editing a draft of this manuscript.

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Authors and Affiliations

  1. Department of Pediatrics, Yokohama City University Medical Center, Yokohama, Kanagawa, Japan

    Ayako Ogata, Saori Deki, Toru Uchimura & Aya Inaba

  2. Department of Pathology, Yokohama City University Medical Center, Yokohama, Kanagawa, Japan

    Masako Otani

  3. Department of Pediatrics, Graduate School of Medicine, Yokohama City University, Yokohama, Kanagawa, Japan

    Shuichi Ito

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  1. Ayako Ogata
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  2. Saori Deki
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Contributions

AO and SI wrote the first draft of the manuscript. MO provided the pathology reports and figures. All authors reviewed and edited the manuscript and approved the final version.

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Correspondence to Shuichi Ito.

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Ogata, A., Deki, S., Uchimura, T. et al. Multinucleated podocytes as a clue to diagnosis of juvenile nephropathic cystinosis. Pediatr Nephrol 39, 609–612 (2024). https://doi.org/10.1007/s00467-023-06103-9

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