Table 3.
Syndromic features in addition to the diabetes: insulin synthesis/secretion
| Gene/protein | Clinical picture | Number of cases described | Median age at diagnosis in weeks (range) | Family history reflected by inheritance | Other clinical features | Treatment |
|---|---|---|---|---|---|---|
| HNF1β | Rarely isolated PNDM or MODY 5 | - Renal developmental disorders, especially renal cysts and dysplasia | Insulin (+possibly treat exocrine deficiency?) | |||
| HNF1β | Renal cysts and diabetes syndrome (RCAD) | - Uterine and genitalia developmental anomalies | ||||
| - Hyperuricaemia, gout | ||||||
| - Abnormal liver function tests | ||||||
| WSF1 | Diabetes insipidus, diabetes mellitus, optic atrophy, deafness (DIDMOAD) syndrome/Wolfram syndrome (90% have mutations) | Especially where consanguineous marriages are frequent | 6 years(Most <16 years) | Dominant | - Diabetes insipidus- Optic atrophy - Bilateral sensorineural deafness- Dilated renal tracts- Truncal ataxia- Protean neurological signs 75% has the complete phenotype, increasing with increasing age | Insulin |
| SLC19A2(Thiaminetransporter protein) | Thiamine responsiveMegaloblastic anaemia (TRMA) syndrome Roger’s syndrome | Rare | Recessive | - Thiamine responsive megaloblastic anaemia- Sensorineural deafness | Thiamine > insulin | |
| tRNA(leu(UUR)) gene (3243 A to G; tRNA) | - Maternally inherited diabetes (MID)- Mitochondrial myopathy, encephalopathy, lactic acidosis, stroke-like syndrome (MELAS) | - Sensorineural deafness- Short stature- Subclinical exocrine deficiency- Heteroplasmy | Insulin |