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Muscular dystonia and athetosis in six patients with congenital nephrotic syndrome of the Finnish type (NPHS1)

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Abstract

Congenital nephrotic syndrome of the Finnish type (NPHS1, CNF) is an autosomal recessively inherited disease occurring due to mutations in the nephrin gene (NPHS1). Two main Finnish mutations exist: Fin-major and minor, which both cause a lack of nephrin and absence of the slit diaphragm between the podocytes. This leads to severe proteinuria, nephrotic syndrome and infections, and without dialysis or renal transplantation, death in infancy. Between 1984 and 2003, six (8.6%) of the 70 NPHS1 patients diagnosed at our institution had, in addition to their renal disease, similar neurological symptoms. All six showed a severe dyskinetic cerebral palsy-like syndrome with dystonic features, athetosis and a hearing defect. The neurological symptoms became apparent during their 1st year of life and were diagnosed before 11 months of age. MRI showed increased signal intensity in T2-weighted images in the globus pallidus area. No mitochondrial gene mutations explaining the neurological symptoms were found, nor did external neurological complications explain them when compared with 29 NPHS1 control patients. Four children died at an early age: two during dialysis and two shortly after renal transplantation. Two are still alive with a functioning graft. Both have severe motor defects, but are mentally active and social.

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Authors and Affiliations

  1. Department of Pediatric Nephrology and Transplantation, Hospital for Children and Adolescents, University of Helsinki, Stenbäckinkatu 11, 00290, Helsinki, Finland

    Hanne Laakkonen, Erik Qvist, Hannu Jalanko & Christer Holmberg

  2. Department of Pediatric Neurology, Hospital for Children and Adolescents, University of Helsinki , Helsinki, Finland

    Tuula Lönnqvist

  3. Department of Pediatrics, University of Oulu, Oulu, Finland

    Johanna Uusimaa & Matti Nuutinen

  4. Clinical Research Center, University of Oulu, Oulu, Finland

    Kari Majamaa

  5. Department of Radiology, University of Helsinki, Helsinki, Finland

    Leena Valanne

  6. Department of Pediatrics, Tampere University Hospital, Tampere, Finland

    Marja Ala-Houhala

Authors
  1. Hanne Laakkonen
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  2. Tuula Lönnqvist
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  3. Johanna Uusimaa
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  4. Erik Qvist
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  7. Marja Ala-Houhala
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  10. Christer Holmberg
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Correspondence to Hanne Laakkonen.

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Laakkonen, H., Lönnqvist, T., Uusimaa, J. et al. Muscular dystonia and athetosis in six patients with congenital nephrotic syndrome of the Finnish type (NPHS1). Pediatr Nephrol 21, 182–189 (2006). https://doi.org/10.1007/s00467-005-2116-1

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  • DOI: https://doi.org/10.1007/s00467-005-2116-1

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