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Alport syndrome with diffuse leiomyomatosis
Author(s) -
Anker Martina C.,
Arnemann Joachim,
Neumann Katrin,
Ahrens Peter,
Schmidt Helga,
König Rainer
Publication year - 2003
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.20019
Subject(s) - medicine , alport syndrome , leiomyomatosis , cataracts , dermatology , nephropathy , sensorineural hearing loss , glomerulonephritis , pathology , hearing loss , endocrinology , ophthalmology , audiology , leiomyoma , diabetes mellitus , kidney
Alport syndrome (AS) is a hereditary nephropathy with hematuria progressing to end‐stage renal failure (ESRF), sensorineural deafness, and specific eye signs (lenticonus, macular flecks, and congenital cataracts). Inheritance is X‐linked in about 85% of the cases, caused by different mutations in the COL4A5 gene. Rarely AS is seen in combination with diffuse leiomyomatosis (DL). DL is a tumorous process involving smooth muscle cells, mostly of the esophagus, but also of the tracheobronchial tree and the female genital tract. Characteristically, the patients have deletions of the 5′‐end of both the COL4A5 and the COL4A6 genes, respectively. We here present a 9‐year‐old boy who was admitted because of a newly diagnosed sensorineural deafness. He was born with cataracts and presented symptoms of dysphagia and bronchial irritation in the first year of life. Macroscopic hematuria was first noticed at 2 years during a febrile infection. Since early childhood the boy suffered from severe constipation. Taking together these symptoms, the diagnosis of Alport syndrome with diffuse leiomyomatosis (AS‐DL) has to be considered. Genetic analysis demonstrated the predicted deletion of the COL4A5 / COL4A6 genes. © 2003 Wiley‐Liss, Inc.