Meckel syndrome

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Classification according to ICD-10
Q61.9 Cystic kidney disease, unspecified
Meckel's syndrome
ICD-10 online (WHO version 2019)

The Meckel syndrome (syn .: Meckel-Gruber syndrome, Gruber syndrome and dysencephalia splanchnocystica) is a hereditary disease . Typical are renal cysts , the principle of other symptoms such as liver cysts , bile duct s dysplasia and polydactyly are accompanied. Depending on the underlying gene defect, a distinction is made between three different types. The inheritance is autosomal - recessive .

The first person to describe the syndrome was Johann Friedrich Meckel the Younger in 1822 .

Symptoms

Polydactyly (hand with six fingers) is a typical symptom

Typical examples are encephaloceles , liver cysts, bile duct dysplasias, cystic kidneys , polydactyly , eye anomalies, cleft lip and palate , liver fibrosis , spina bifida and heart defects. In order to be able to make the diagnosis of "Meckel syndrome", at least two typical changes must be present. The polycystic kidney degeneration, which is still shown as “mandatory” in the ICD10 code, is no longer a necessary criterion today.

Frequency and sub-types

Meckel's syndrome is very rare and its frequency varies from region to region. It occurs more frequently in Finland ( incidence 1: 140,000–9,000). The subtypes are based on different genetic defects:

  • Type 1 (Finnish type) : chromosome 17 (17q23)
  • Type 2 (arabic type) chromosome 11 (11q13)
  • Type 3 (Indian type) chromosome 8 (8q21.13-q22.1)

Therapy and prognosis

The prognosis depends on the type and degree of severity of the existing malformations, but should generally be viewed as poor . Newborns usually only survive a few days. Specific therapy is not possible; in some cases, soothing measures are indicated.

Individual evidence

  1. ↑ L. Göbbel: Pathomorphological investigations and screening of aDNA sequences for the detection of aneuploidies in human atological preparations of the Meckel collections. 2008, p. 54, abstract and 8th theses (pdf; 56 kB) ; last viewed on April 23, 2009.
  2. ^ A b c d R. Witkowski et al: Lexicon of Syndromes and Malformations. Springer, 2003, ISBN 3-540-44305-3 , p. 801. (online)
  3. ↑ MECKEL SYNDROME, TYPE 1.  In: Online Mendelian Inheritance in Man . (English)
  4. ↑ MECKEL SYNDROME, TYPE 2.  In: Online Mendelian Inheritance in Man . (English)
  5. ↑ MECKEL SYNDROME, TYPE 3.  In: Online Mendelian Inheritance in Man . (English)
  6. ^ A. Strauss: Meckel-Gruber syndrome. In: Ultrasound Practice. 2nd Edition. 2008, ISBN 978-3-540-78252-0 , p. 293. (online)