Kongenitale Anomalien der Niere und des Harntraktes 1
CAKUT1 bezeichnet kongenitale Anomalien der Niere und des Harntraktes 1 die durch Mutationen im DSTYK-Gen hervorgerufen werden. Die Vererbung ist autosomal dominant.
Gliederung
Referenzen:
| 1. |
Sanna-Cherchi S et al. (2013) Mutations in DSTYK and Dominant Urinary Tract Malformations. [^] |
| 2. |
None (1977) Heterogeneity of bilateral renal agenesis. [^] |
| 3. |
McGillivray BC et al. (1990) Familial 5q11.2----q13.3 segmental duplication cosegregating with multiple anomalies, including schizophrenia. [^] |
| 4. |
McPherson E et al. (1987) Dominantly inherited renal adysplasia. [^] |
| 5. |
Buchta RM et al. (1973) Familial bilateral renal agenesis and hereditary renal adysplasia. [^] |
| 6. |
Hakim RM et al. (1984) Hypertension and proteinuria: long-term sequelae of uninephrectomy in humans. [^] |
| 7. |
Kiprov DD et al. (1982) Focal and segmental glomerulosclerosis and porteinuria associated with unilateral renal agenesis. [^] |
| 8. |
Doray B et al. (1999) Hereditary renal adysplasia in a three generations family. [^] |
| 9. |
Li Volti S et al. () Non-allelic heterogeneity in familial unilateral renal adysplasia. [^] |
| 10. |
GORVOY JD et al. (1962) Unilateral renal agenesis in two siblings. Case report. [^] |
| 11. |
Sanna-Cherchi S et al. (2007) Localization of a gene for nonsyndromic renal hypodysplasia to chromosome 1p32-33. [^] |
| 12. |
None (1943) Two Cases of Congenital Absence of One Kidney in Same Family. [^] |
| 13. |
Renkema KY et al. (2011) Novel perspectives for investigating congenital anomalies of the kidney and urinary tract (CAKUT). [^] |
| 14. |
OMIM.ORG article Omim 610805 [^] |
