Phenotype #0000084404
| Individual ID |
00106597 |
| Associated disease |
CYSRD |
| Phenotype details |
cystic renal dysplasia; born at 38w gestational age. Prenatal ultrasound had shown unilateral dysplasia with cysts of the right kidney at 22 weeks gestational age. MRI was performed in order to rule out a renal tumour. Postnatal sonography showed renal dysplasia with cysts, increase of renal size (65 x 50 mm) and renal hyperechogenicity of the right kidney , whereas the left kidney was completely normal. No other visceral malformations were detected. Arterial hypertension (120/80 mmHg) responded favourably to beta-blockers. As no specific aetiology for arterial hypertension was found, it has been attributed to the right renal dysplasia with cysts. DMSA scintigraphy showed hypofunction of the right kidney (34% of the total renal function). Serum creatinine was normal, proteinuria negative, and glycemia normal. No sonographic abnormalities of liver or pancreas were detected. At last follow-up the boy was 18 months old, had normal blood pressure (under low dose beta-blockers), a normal psycho-motor development and normal height (81 cm) and weight (10.8 kg). His proteinuria, microalbuminuria and renal function were normal. Serum creatinine was 29 µmol/L (GFR of 115 ml/min/1.73m2), and glycemia was 4.3 mmol/L. Sonographic abnormalities persist without significant changes. |
| Diagnosis/Initial |
- |
| Inheritance |
Familial |
| Diagnosis/Definite |
- |
| Age/Examination |
- |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
Anne Grapin-Botton |
| Database submission license |
No license selected |
| Created by |
Anne Grapin-Botton |
| Date created |
2011-08-19 11:58:31 +02:00 (CEST) |
| Date last edited |
2011-08-19 16:20:35 +02:00 (CEST) |
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