Hypoparathyroidism, sensorineural deafness and renal dysplasia (HDR) syndrome is an autosomal dominant disorder (1). We herein demonstrate the brain computed tomography (CT) findings of a 31-year-old woman with HDR syndrome caused by a GATA3 heterozygous mutation (2). Her 1-year-old son had renal cystic dysplasia. Brain CT revealed bilateral and symmetrical calcifications in the basal ganglia, ...

Few cases of unilateral renal agenesis associated with ipsilateral seminal vesicle ectasia or cyst have been reported. Two cases of unilateral renal aplastic dysplasia and ipsilateral ectopic ureter opening in the ejaculatory ducts associated with infertility secondary to bilateral obstruction of the seminal via are reported. Clinical and physical assessment including transrectal ultrasound and...

Academic Press, New York, NY, 1993 6 Nash AS: Familial renal disease in dogs. J Small Anim Pract 30178-183, 1989 7 Picut CA, Lewis RM: Microscopic features of canine renal dysplasia. Vet Pathol 24: 156-1 63, 1987 8 Smart ME, Fletch SM: Progressive renal failure in a dog. J Am Vet Med Assoc 161:1402-1411, 1972 9 Welling LW, Grantham JJ: Cystic and developmental diseases of the kidney. in: The Ki...

Magnetic resonance imaging (MRI) has become the principal tool for Wilms tumor (WT) assessment and follow-up. MRI and histopathologic findings were not congruent in 2 of the q30 scanned patients with renal masses (2008 to 2011). Three lesions thought to be WT on MRI were found to be a sclerotic nephrogenic rest (1), cystic renal dysplasia (1), and focal chronic pyelonephritis (1). The "typical"...

Congenital hepatic fibrosis (CHF) is associated with autosomal recessive polycystic kidney disease (ARPKD). Although cystic renal dysplasia (CRD) is the most common form of newborn cystic renal disease, this disorder of anomalous metanephric differentiation is only rarely found concurrent with CHF. Our literature review found only 13 sporadic and 12 familial non-syndromic cases of combined bila...

BACKGROUND Hepatocyte nuclear factor-1beta (HNF-1beta) is a critical transcription factor in pancreatic and renal development. Our previous report identified HNF-1beta mutations in 23/160 patients with unexplained renal disease. The most common phenotype is renal cysts, which is frequently associated with early-onset diabetes in the renal cysts and diabetes (RCAD) syndrome. HNF-1beta gene delet...

BACKGROUND Situs inversus is a rare complication of cystic kidney diseases. Only three genes, INVS (NPHP2), NPHP3 and PKD2 have been proved to be responsible for some cases, while the responsible genes in many others are still unknown. CASE REPORTS Here we report two male patients with situs inversus combined with cystic kidney disease without any family history of polycystic kidney disease. ...

Renal dysplasia, the major cause of childhood renal failure in humans, arises from perturbed renal morphogenesis and molecular signaling during embryogenesis. Recently, we discovered induction of molecular crosstalk between Smad1 and beta-catenin in the TgAlk3QD mouse model of renal medullary cystic dysplasia. Our finding that Myc, a Smad and beta-catenin transcriptional target and effector of ...

Joubert syndrome (JS) is an autosomal recessive genetic disorder. To date, mutations in 20 genes of the genetically heterogeneous JS and JS-related disorders (JSRD) have been reported. Renal involvement occurs in 2-20% of JS cases. Identified renal abnormalities are cystic dysplasia and nephronophthisis. Here we report the clinical course and management of renal failure in early childhood. We p...