ATP6AP1‐CDG: Follow‐up and female phenotype

Autor: Anna Tylki-Szymańska, Dariusz Rokicki, Patryk Lipiński, Justyna Lesiak, Anna Bogdańska, Dirk Lefeber
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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