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Daughter and mother with orofaciodigital syndrome type 1 and glomerulocystic kidney disease.
- Source :
-
Human pathology [Hum Pathol] 2016 Sep; Vol. 55, pp. 24-9. Date of Electronic Publication: 2016 Apr 27. - Publication Year :
- 2016
-
Abstract
- A 35-year-old woman was admitted to our hospital for evaluation of end-stage renal failure. Diagnostic imaging, including ultrasonography and magnetic resonance imaging, showed polycystic kidneys and peribiliary hepatic cysts, but the renal cysts were isointense and her kidneys were smaller than the end-stage kidneys of patients with autosomal dominant polycystic kidney disease. Glomerulocystic kidney disease was diagnosed by renal biopsy. Clinical examination revealed findings such as a missing maxillary canine, lingual anomalies, and brachydactyly. Genetic testing gave a diagnosis of orofaciodigital syndrome type 1 with a 5 nucleotide deletion indicating a frameshift mutation in exon 9. The patient's mother had the same mutation and similar clinical findings. This case is useful for understanding kidney and liver involvement in orofaciodigital syndrome type 1.<br /> (Copyright © 2016 Elsevier Inc. All rights reserved.)
- Subjects :
- Adult
Biopsy
DNA Mutational Analysis
Disease Progression
Exons
Female
Genetic Predisposition to Disease
Heredity
Humans
Kidney Failure, Chronic diagnosis
Kidney Failure, Chronic genetics
Kidney Glomerulus pathology
Magnetic Resonance Imaging
Orofaciodigital Syndromes diagnosis
Pedigree
Phenotype
Polycystic Kidney Diseases diagnosis
Frameshift Mutation
Mothers
Orofaciodigital Syndromes genetics
Polycystic Kidney Diseases genetics
Proteins genetics
Sequence Deletion
Subjects
Details
- Language :
- English
- ISSN :
- 1532-8392
- Volume :
- 55
- Database :
- MEDLINE
- Journal :
- Human pathology
- Publication Type :
- Academic Journal
- Accession number :
- 27131853
- Full Text :
- https://doi.org/10.1016/j.humpath.2016.04.005