INFORMAZIONI SU QUESTO ARTICOLO
Article Category: Review article
Pubblicato online: 23 mar 2021
Pagine: 5 - 15
DOI: https://doi.org/10.2478/bjmg-2020-0027
Parole chiave
© 2020 Kocova M, published by Sciendo
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.
Figure1
Mutations in syndromic neonatal diabetes mellitus.
| Mechanism | Gene Mutation | Chromosome Locus | Inheritance | Additional Features |
|---|---|---|---|---|
| Fanconi-Bickel syndrome | 3q26.1-26.3 | AR | hypergalatosemia; liver dysfunction | |
| Roger syndrome | 1q23.3 | AR | thiamine-sensorinueral responsive deafness megaloblastic anemia; | |
| Abnormal development pancreatic | 6q22.1 | AR | intestinal atresia + bladder agenesis | |
| 18q11-q11.2 | AD | pancreatic biliary abnormalities agenesis; heart defects; | ||
| 8p23.1 | AD | pancreatic agenesis + heart defects | ||
| 9p24.3-p23 | AR | congenital hepatic fibrosis; hypothyridism; renal cysts glaucoma; | ||
| 10q21.3 | AR | malabsorbtive diarrhea | ||
| 2q32 | AR | cerebellar deafness hypoplasia; visual impairment; | ||
| 11.p13 | AR | microphtalmia; brain malformations | ||
| 7q36.3 | AR | developmental imperforate anus delay; sacral agenesis; | ||
| 20p11.22 | AR | developmental deafness delay; hypotonia; short stature; | ||
| 10.p12.2 | AR | pancreatic hypoplasia; cerebellar hypoplasia | ||
| Destruction of β-cells | ||||
| Wolcott-Rallison syndrome | 2p11.2 | skeletal dysplasia; liver dysfunction | ||
| 18q21.2 | AR | microcephaly; lisencephaly; enceph-alopathy | ||
| IPEX syndrome | Xp11.23-p13.3 | X-recessive linked; | autoimmune autoimmune enteropathy; hypothyroidism; eczema | |
| Wolfram (DIDMOAD)syndrome a | 4p16.1 | AR | optic atrophy; DM; DI | |
| 4p16.1 | AD | congenital cataracts; deafness |
Gene mutations in transient neonatal diabetes mellitus.
| Mechanism of β-Cell Dysfunction | Gene Mutation | Chromosome Locus | Inheritance | Additional Features | Therapy |
|---|---|---|---|---|---|
| Reduced β-cell development | 6q24 | imprinting; AD | macroglossia; umbilical hernia | insulin | |
| 6p22.1 | AR | insulin | |||
| 17q21.3 | AD | pancreatic cysts hypoplasia; renal | |||
| Failure membrane to depolarize | 11p15.1 | AD; | low developmental birth weight; delay; DEND | sulfonylurea | |
| Failure channel to close KATP | 11p15.1 | AD; AR; | low birth weight | sulfonylurea | |
| Abnormal β-cell function | 11p15.5 | AR | low birth weight | insulin |
Gene mutations in permanent neonatal diabetes mellitus.
| Mechanism of β-Cell Dysfunction | Gene Mutation | Chromosome Locus | Inheritance | Additional Features | Therapy |
|---|---|---|---|---|---|
| Failure membrane to depolarize | 11p15.1 | AD; | low developmental birth weight; delay; DEND | sulfonylurea | |
| Failure KATP channel to close | 11p15.1 | low birth weight | sulfonylurea | ||
| Abnormal function β-cell | 11p15.5 | low birthweight | insulin | ||
| Abnormal sensing glucose | 7p15-13 | AR | |||
| Abnormal development pancreatic | 13.q12.1 | AR | pancreatic afenesis steatorrhea |