De novo X-linked Alport syndrome in a 3-year-old girl

Alport syndrome (AS) is an inherited kidney disease that may lead to end-stage renal disease in early adult life. It is a clinically and genetically heterogeneous nephropathy. The possibility of a patient with haematuria or proteinuria being diagnosed as having AS cannot be excluded even if the pati...

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Bibliographic Details
Published in:BMJ case reports 2019-07, Vol.12 (7), p.e230183
Main Authors: Komatsu, Hiroshi, Goda, Takeshi, Nozu, Kandai
Format: Article
Language:English
Subjects:
Age
Biopsy
Case reports
Child, Preschool
Collagen
Collagen Type IV - genetics
Families & family life
Family medical history
Female
Frameshift Mutation - genetics
Genes
Glomerular Basement Membrane - ultrastructure
Hearing loss
Hematuria - genetics
Heterozygote
Humans
Kidney diseases
Microscopy
Microscopy, Electron
Mutation
Nephritis, Hereditary - diagnosis
Nephritis, Hereditary - genetics
Parents & parenting
Proteinuria - genetics
Reminder of Important Clinical Lesson
Urinalysis
Urine
Womens health
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Summary:Alport syndrome (AS) is an inherited kidney disease that may lead to end-stage renal disease in early adult life. It is a clinically and genetically heterogeneous nephropathy. The possibility of a patient with haematuria or proteinuria being diagnosed as having AS cannot be excluded even if the patient is female or if the family history is unknown. We report a 3-year-old girl with a de novo frameshift mutation, c.3906delA p.(Gly1303Aspfs*17), in the COL4A5 gene. The significance of the electron microscopic study on the glomerular basement membrane must be emphasised because it is the first step towards the diagnosis of AS. Genetic analysis provides the only conclusive diagnosis of AS, by determining the mode of inheritance and prognosis.
ISSN:1757-790X
1757-790X
DOI:10.1136/bcr-2019-230183