ArticlePediatric nephrology (Berlin, Germany)2006
Muscular dystonia and athetosis in six patients with congenital nephrotic syndrome of the Finnish type (NPHS1).
Article in Pediatric nephrology (Berlin, Germany), 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 21 citations in OpenAlex.
- Movement Disorders and Renal Diseases.Movement disorders clinical practice · 2020Review
- Nephrotic syndrome and mitochondrial disorders: answers.Pediatric nephrology (Berlin, Germany) · 2019Article
- Normal growth and intravascular volume status with good metabolic control during peritoneal dialysis in infancy.Pediatric nephrology (Berlin, Germany) · 2010Article
- Inducible nephrin transgene expression in podocytes rescues nephrin-deficient mice from perinatal death.The American journal of pathology · 2010Article
- Molecular genetic analysis of podocyte genes in focal segmental glomerulosclerosis--a review.European journal of pediatrics · 2009Review
- A new case of Finnish-type congenital nephrotic syndrome, neuromuscular symptoms and early death.NDT plus · 2008Article
- Nephrin binds to the COOH terminus of a large-conductance Ca2+-activated K+ channel isoform and regulates its expression on the cell surface.American journal of physiology. Renal physiology · 2008Article
- Essential fatty acid deficiency profile in patients with nephrotic-range proteinuria.Pediatric nephrology (Berlin, Germany) · 2007Article
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Authors and funding
10 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
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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