ATP6AP1‐CDG: Follow‐up and female phenotype
Autor: | Anna Tylki-Szymańska, Dariusz Rokicki, Patryk Lipiński, Justyna Lesiak, Anna Bogdańska, Dirk Lefeber |
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Rok vydání: | 2020 |
Předmět: |
Research Report
medicine.medical_specialty lcsh:QH426-470 Hearing loss Endocrinology Diabetes and Metabolism Connective tissue lcsh:Diseases of the endocrine glands. Clinical endocrinology Biochemistry Genetics and Molecular Biology (miscellaneous) Gastroenterology congenital disorder of glycosylation Internal medicine otorhinolaryngologic diseases Internal Medicine medicine Exocrine pancreatic insufficiency Immunodeficiency ATP6AP1 deficiency chemistry.chemical_classification lcsh:RC648-665 Proteinuria business.industry Research Reports Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3] medicine.disease lcsh:Genetics medicine.anatomical_structure chemistry Transferrin Sensorineural hearing loss proteinuria medicine.symptom business Congenital disorder of glycosylation |
Zdroj: | JIMD Reports Jimd Reports, 53, 1, pp. 80-82 JIMD Reports, Vol 53, Iss 1, Pp 80-82 (2020) Jimd Reports, 53, 80-82 |
ISSN: | 2192-8312 2192-8304 |
Popis: | Contains fulltext : 220674.pdf (Publisher’s version ) (Open Access) In 2016, 11 male patients were reported with immunodeficiency and hepatic, gastric and (in some) neurological disease due to X-linked ATP6AP1 deficiency (ATP6AP1-CDG). In 2018, three other patients were reported with additional features: connective tissue abnormalities, sensorineural hearing loss, hyperopia, glomerular and tubular dysfunction, exocrine pancreatic insufficiency and altered amino acid and lipid metabolism. We here present a follow-up of three reported siblings showing progression of deafness to total hearing loss, progressive loss of hair up to alopecia, chestnut skin and, at last follow-up, in some of them proteinuria. Three female carriers showed a normal serum transferrin isoelectrofocusing but in two of them there was a persistent proteinuria. |
Databáze: | OpenAIRE |
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