Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
A broad set of inborn morphological abnormalities of the urogenital organs are clustered in families with hereditary diseases.
| MODY5 diabetes | |
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Malformations in MODY 5 are predominantly cystic. Because apparent soon after birth, they precede diabetes. |
| Renal cysts and diabetes (RCAD) | |
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Malformations in RCAD are predominantly cystic. Because apparent soon after birth, they precede diabetes. |
| Renal hypodysplasia/aplasia | |
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Malformations in renal aplasia are severe and life threatening. |
| Renal hypodysplasia/aplasia 1 | |
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Malformations in renal aplasia type 1 are life threatening. |
| Renal hypodysplasia/aplasia 2 | |
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Malformations in renal aplasia type 2 are life threatening. |
| Renal tubular dysgenesis | |
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Renal malformations include absence of proximal tubules and renal artery hyperplasia. Early signs can be found by fetal ultrasound along with oligohydramnios. |
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