The development of end stage renal disease in two patients with PMM2-CDG

The development of end stage renal disease in two patients with PMM2-CDG

We report two patients with PMM2-CDG who developed end stage renal disease (ESRD). Renal abnormalities of clinical significance have only been reported in about 6% of patients with PMM2-CDG and have rarely been reported as the cause of death. Given the recurrent episodes of acute kidney injury assoc...

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Bibliographic Details
Main Authors: Berry, G.T (Author), Brucker, W.J (Author), Hecht, L.E (Author), Rodig, N.M (Author), Tiwary, H. (Author)
Format: Article
Language:English
Published: John Wiley and Sons Inc 2022
Subjects:
acute kidney failure
Article
blood clotting disorder
case report
CDG—chronic kidney disease
child
chronic kidney failure
CKD—phosphomannosemutase-2
clinical article
clinical trial
congenital hypothyroidism
creatinine blood level
eczema
end stage renal disease
enteropathy
ESRD—toll-like receptor
female
gastrointestinal hemorrhage
gene sequence
genital system
hearing impairment
hemodialysis
hospitalization
human
hyperinsulinism
hypoalbuminemia
hypoglycemia
kidney tubule disorder
liver function
meningitis
muscle hypotonia
pancytopenia
pericardial effusion
physiology
PMM2—end stage renal disease
pregnancy
primigravida
proteinuria
retina dystrophy
seizure
thrombocytopenia
TLR—congenital disorder of glycosylation
UPC—urine protein-to-creatinine ratio
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