Open AccessATP6AP1‐CDG: Follow‐up and female phenotype
Author(s) -
Lipiński Patryk,
Rokicki Dariusz,
Bogdańska Anna,
Lesiak Justyna,
Lefeber Dirk J.,
TylkiSzymańska Anna
Publication year - 2020
Publication title -
jimd reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.412
H-Index - 25
ISSN - 2192-8312
DOI - 10.1002/jmd2.12104
Subject(s) - proteinuria , hearing loss , hair loss , sensorineural hearing loss , medicine , endocrinology , connective tissue , transferrin , phenotype , albuminuria , pathology , gastroenterology , disease , biology , dermatology , kidney , audiology , gene , biochemistry
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.