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- The OMMBID Blog » archive for April, 2007
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Infantile nephrotic syndrome
- April 18th, 2007
Mutations in 4 genes, some only recently identified, are identified as culprits in up to a third of infants with nephrotic syndrome. Nephrotic syndrome presents with proteinuria, hypoalbuminaemia, edema, and hyperlipidemia. This group studied 80 families where nephrotic syndrome presented before a year of age and identified mutations in NPHS1, NPHS2, WT1, and LAMB2 with a frequency of 22.5%, 37.5%, 3.8%, and 2.5%, respectively. This puts emphasis on the fact that genetics testing should be an early step in the etiological investigation of nephrotic syndrome in infants, as this may have repercussions on future counselling.
Pediatrics. 2007 Apr;119(4):e907-19. Epub 2007 Mar 19.
Hinkes BG, Mucha B, Vlangos CN, Gbadegesin R, Liu J, Hasselbacher K, Hangan D,
Ozaltin F, Zenker M, Hildebrandt F; Arbeitsgemeinschaft fur Paediatrische
Nephrologie Study Group.
Thank you very much in advance for your contributions to this blog (Click on login to register and post a message).Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator -
Mitochondrial aspartyl-tRNA synthetase
- April 18th, 2007
Nat Genet. 2007 Apr;39(4):534-9. Epub 2007 Mar 25.
Scheper GC, van der Klok T, van Andel RJ, van Berkel CG, Sissler M, Smet J,
Muravina TI, Serkov SV, Uziel G, Bugiani M, Schiffmann R, Krageloh-Mann I,
Smeitink JA, Florentz C, Van Coster R, Pronk JC, van der Knaap MS.Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation is a recently defined condition. In this interesting study, mutations were identified in a gene encoding mitochondrial aspartyl-tRNA synthetase, in affected individuals from all 30 families studied.
Thank you very much in advance for your contributions to this blog (Click on login to register and post a message).Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator
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