Table 3 Conditions reported by clinicians/PO as a cause of death in fifteen patients with alpha-mannosidosis
From: Mortality in patients with alpha-mannosidosis: a review of patients’ data and the literature
Patient Cause of death | n (%) | Sex | Year of death | Age at death (years) | Mutations identified in MAN2B1; cDNA p.(protein) | |
|---|---|---|---|---|---|---|
Pneumonia | 7 (46.7) | |||||
1 | Pneumonia | M | 2006 | 49 | n/a | |
2 | Pneumonia | F | 2010 | 21 | n/a | |
3 | Pneumonia | M | 2014 | 35 | c.2402delG p.(G2801AfsX4); c.2665-42_2665-77del36; c.2665-5_2665-39del35; c.2665-5_2665-39del35 | |
4 | Pneumonia, aspiration | M | 2015 | 45 | c.1831-2A > G p.(His611Glyfs*3); c.1831-2A > G p.(His611Glyfs*3) | |
5 | Pneumonia, with pleura empyema and pneumothorax | F | 2015 | 50 | c.2175_2177delins11 p.(Trp725CysfsX4); c.2175_2177delins11 p.(Trp725CysfsX4) | |
6 | Cachexia, pneumonia | F | 2018 | 56 | c.1816delA p.(Thr606ProfsX18); c.1830 + 1G > C(IVS14 + 1G > C) | |
7 | Pneumonia | F | 2021 | 56 | c.685C > T p.(Arg229Trp); c.1830 + 1G > C p.(Val549_Glu610del) | |
Septicaemia | 1 (6.7) | |||||
8 | Acute renal failure due to sepsis, after intestinal perforation due to inflammatory bowel disease | F | 2017 | 27 | c.788C > T p.(Pro263Leu); c.2355G > A p.(Arg757Metfs*6) | |
Cancer | 3 (20.0) | |||||
9 | Leukaemia | n/a | 2000 | 18 | n/a | |
10 | Breast cancer | F | 2013 | 39 | c.1830 + 1G > C (IVS14 + 1G > C); c.1830 + 1G > C(IVS14 + 1G > C) | |
11 | Colon carcinoma | M | 2019 | 52 | n/a p.(Tyr99ValfsX61); n/a p.(Tyr99ValfsX61) | |
Other | 4 (26.7) | |||||
12 | Dehydration due to catatonia during a psychotic episode | M | 2003 | 39 | c.1026 + 2 T > G p.(Gln339_Val342del4); c.1026 + 2 T > G p.(Gln339_Val342del4) | |
13 | Kidney failure, systemic lupus erythematosus | F | 2010 | 48 | c.1831-2A > G p.(His611Glyfs*3); c.1831-2A > G p.(His611Glyfs*3) | |
14 | Aortic valve insufficiency, heart failure | F | 2012 | 20 | c.1109G > A p.(Trp370*); c.1109G > A p.(Trp370*) | |
15 | Decrease of red blood cells (deglobulisation) of unknown origin | M | 2014 | 49 | c.2165 + 1G > A (IVS17 + 1G > A); c.2165 + 1G > A (IVS17 + 1G > A) | |