Meckel syndrome

The Meckel syndrome (syn.: Meckel - Gruber syndrome, Gruber syndrome and Dysencephalia splanchnocystica ) is a hereditary disease. Typical are kidney cysts, which are generally accompanied by other symptoms such as liver cysts, and polydactyly Gallengangsdysplasien. Depending on the underlying genetic defect, three different types can be distinguished. The inheritance is autosomal recessive.

As first described the syndrome in 1822 Johann Friedrich Meckel applies the Younger.

Symptoms

Typically, for example, encephalocele, liver cysts, Gallengangsdysplasien, cystic kidneys, polydactyly, eye abnormalities, cleft lip and palate, liver fibrosis, spina bifida and heart defects. In order to make the diagnosis " Meckel syndrome," at least two typical changes must be present. The " necessarily present" illustrated than in the ICD10 code polycystic kidney disease valid nowadays no more than a necessary criterion.

Frequency and sub-types

The Meckel syndrome is very rare, its incidence varies regionally. Heaped in Finland it occurs (incidence 1:140.000-9000 ). The subtypes have different underlying genetic defects:

• Type 1 ( Finnish type ): chromosome 17 ( 17q23 )
• Type 2 ( Arab type) chromosome 11 ( 11q13 )
• Type 3 (Indian type) chromosome 8 ( 8q21.13 - Q22.1 )

Treatment and prognosis

The prognosis depends on the type and degree of severity of the existing malformations, but in principle be regarded as hopeless. Newborns usually survive only a few days. No specific therapy is not possible, in some cases, palliative measures are indicated.