Renal findings in 40 individuals with Williams syndrome.

We tabulated the frequency of renal abnormalities in 40 Williams syndrome individuals presenting for medical and/or developmental assessment to a multi-disciplinary Williams syndrome program. The average age at time of assessment was 7 2/12 years. Seven individuals (7/40 = 18%) had abnormalities detected, including nephrocalcinosis = 2; marked asymmetry in kidney size = 2; small kidneys = 1; solitary kidney = 1; and pelvic kidney = 1. Renal function was also assessed. Two individuals had evidence of renal dysfunction, one secondary to nephrocalcinosis and the second due to hypercalcemia and interstitial nephritis of unclear pathogenesis. We examined the frequency of renal artery stenosis in 9 individuals who underwent abdominal angiography during cardiac catheterization. We found unilateral or bilateral mild renal artery narrowing in 4 individuals and normal renal arteries in the remaining 5. Persistent hypertension occurred in only 2 individuals and did not correlate with renal artery status. We conclude that intrinsic renal anomalies, as well as problems secondary to hypercalcemia, occur with sufficient frequency to warrant baseline renal screening in all individuals with Williams syndrome.

Idiopathic congenital nonobstructive nephrolithiasis: a case report and review.

We describe a case of congenital nephrolithiasis, which presented with hematuria at birth. No etiopathological factor could be determined for renal stone formation despite extensive investigation. There was a family history of renal stones in both maternal and paternal grandparents and of microscopic hematuria in the mother. There was no associated urinary flow obstruction and the hematuria remitted spontaneously. The infant was treated conservatively. The follow-up studies revealed persistence of renal stone but no hematuria. This case can be considered as idiopathic, or an early presentation of one of the rare genetic disorders associated with renal stones. Congenital nonobstructive nephrolithiasis has not been reported previously and should be considered as a cause of hematuria during this age.

[Neonatal ultrasonic detection of medullary nephrocalcinosis associated with Butler-Albright distal tubular acidosis. Apropos of a case]. / Détection échographique néonatale de la néphrocalcinose médullaire associée à l'acidose tubulaire distale de Butler-Albright. A propos d'une observation.

Butler-Albright's distal tubular acidosis was confirmed by ultrasound imaging in the neonatal period, image characteristics showing persistent medullary hyperechogenicity. This case is remarkable by the very early-stage diagnosis of the nephrocalcinosis.

Echography in the post-natal diagnosis of congenital urinary tract disorders.

The lecture concerns itself specifically with post-natal diagnosis of urinary tract disorders in a child, investigation of the siblings and parents and monitoring of children "at risk". The author describes the advantages of ultrasonography compared with other imaging techniques and gives a description of the appearance of major congenital conditions (infantile type polycystic disease, adult type polycystic disease, medullary cystic disease, nephrocalcinosis and lucent crystal deposits). The author hints at the necessity to screen the parents of children presenting with infantile polycystic disease, as this research was done for the relatives of cases of adult polycystic disease.

Congenital mesoblastic nephroma, nephrocalcinosis, and hypertrophic pyloric stenosis.

A cellular variant of congenital mesoblastic nephroma (CMN) occurring in a newborn is presented. Coincidental findings were congenital hypertrophic pyloric stenosis (CHPS) and nephrocalcinotic hypercalcemia that reverted after nephrectomy. As of the day of writing, this multiple association has not been reported. The authors believe that both CMN and CHPS could be interpreted as fibroblastic proliferative-related entities. Transient hypercalcemia seems to be a paraneoplastic phenomenon.

Prednisolone and cellulose phosphate treatment in idiopathic infantile hypercalcaemia with nephrocalcinosis.

A girl presented at the age of 8 months with idiopathic infantile hypercalcaemia complicated by hypercalciuria, nephrocalcinosis and failure to thrive. Her hypercalcaemia was partially corrected by prednisolone, but resolved with the addition of cellulose phosphate. Her height and weight showed significant improvement during the treatment period. Cellulose phosphate should be considered in the management of children with idiopathic infantile hypercalcaemia and nephrocalcinosis.