Disease #02353 (CYSRD (dysplasia, renal, cystic, susceptibility to (CYSRD)), OMIM:601331)

Official abbreviation CYSRD
Name dysplasia, renal, cystic, susceptibility to (CYSRD)
OMIM ID 601331
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 2
Phenotype entries for this disease 2
Associated with 1 gene BICC1
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

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00106597 - - Renal ultrasound, fasting blood glucose and HbA1C of both parents were normal and no case of diabetes or renal failure is known in the family. The heterozygous p.Gln87X nonsense mutation was found in this child and his father. M - - white - - - - CYSRD 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. BICC1 BICC1 1 1 Anne Grapin-Botton
00106598 - - Familial history is negative for renal failure or diabetes. The missense mutation p.(Glu932Gly) located in exon 21 was identified in this child and his mother. M - - white - - - - CYSRD cystic renal dysplasia; born at 32w gestational age. The second trimester prenatal ultrasound had shown a dysplastic left kidney and a normal right kidney. Ultrasound follow-up revealed a hyperechogenic right kidney with normal size and shape. The amount of amniotic fluid was normal as well as the amniotic biochemistry. At birth, the renal function and the blood pressure were within the normal ranges for the term. The patient experienced a spontaneous pneumothorax which rapidly resolved. Post natal sonography confirmed the dysplastic left kidney; The right kidney appeared always hyperechogenic but it progressively became normal on the following ultrasound controls. Retrograde cystography showed a left low grade vesico-ureteral reflux. No additional clinical or imaging abnormalities were found. DMSA scintigraphy performed at the age of 9 months showed a non functional left kidney with a compensatory hyperfunction of the right kidney (30%, normal range 15 ± 3.7%). Over the first 3 years, the patient experienced three episodes of acute pyelonephritis despite the antibiotic prophylaxis. At the age of 3 years, the left kidney appeared on sonography as a cluster of cysts varying from 1 to 2.7 cm of diameter, whereas the right kidney measured 8.2 cm. The pancreas and liver were normal. At last follow-up, the boy was 5 years-old, psycho-motor development and growth were persistently normal (height 105.5 cm, weight 19.3 kg), blood pressure was 104/69, serum creatinin was 53 µmol/l (GFR of 72 ml/min/1.73m²) and glycaemia was 4.44 mmol/L. BICC1 BICC1 1 2 Anne Grapin-Botton
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