Hypoparathyroidism, deafness and renal dysplasia (HDR; OMIM 146255) syndrome is a rare disease which is first defined by Barakat in 1977 (1). It is characterized by hypoparathyroidism, sensorineural deafness and renal dysplasia, inherited dominantly and found to be related with GATA3 gene mutations. This gene is located on 10 p 15 and is essential in embryonic development of the parathyroid gla...

The syndrome of familial hypoparathyroidism, sensorineural deafness, and renal dysplasia (HDR syndrome) is inherited as an autosomal dominant trait, caused by haploinsufficiency of the GATA3 gene in chromosome 10p. Although first described years ago, but the disease is considered to be very rare. Patients usually present with hypocalcemia, tetany, or afebrile convulsions at any age. Hearing los...

BACKGROUND An immunoglobulin G4 (IgG4)-related disease is important disease in differential diagnosis of tumors in kidney, pancreas, lung and other organs. The imaging findings of IgG4-related kidney diseases are usually expressed as defect contrast region, while cystic formation in kidney is extremely rare. Here, we report a case of IgG4-related tubulointerstitial nephritis with renal cystic c...

Hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome is an autosomal dominant genetic disorder characterized by hypoparathyroidism, sensorineural deafness and renal dysplasia. We herein present the first Turkish patient with HDR syndrome, who has a p.R367X mutation. This report indicates that p.R367X is not a mutation specific for the Far Eastern populations and also that urological ...

We describe a case of a 75-year-old woman with squamous cell carcinoma in the right renal pelvis accompanied by multiple dysplasia in the upper urinary tract. Though it is difficult to make a preoperative diagnosis of squamous cell carcinoma, lavage cytology is particularly valuable. Renal arteriography and cross-sectional imaging are also useful to assess an accurate stage. We postulate that s...

We have bred a Pkd1 floxed allele with a nestin-Cre expressing line to generate cystic mice with preserved glomerular filtration rate to address the pathogenesis of complex autosomal dominant polycystic kidney disease (ADPKD) phenotypes. Hypertension affects about 60% of these patients before loss of renal function, leading to significant morbimortality. Cystic mice were hypertensive at 5 and 1...

Cystic nephroma is a rare, benign multicystic lesion of the kidney. This tumor occurs both in children and in adults. In children, it is highly prevalent in males; in adults, it is more frequent in women. The term "cystic nephroma" represents two apparently different entities: pediatric cystic nephroma, a benign form thought to originate from metanephric tissue, and adult cystic nephroma, consi...

AbsractThis study investigated a 63-day boy with end stage renal disease and abdominalcysts. The antenatal sonography detected anhydraminos, posterior urethral valve,and cystic dysplastic kidneys. Voiding cystourethrogram revealed two obstructivegiant diverticula which at first looked like enlarged renal pelvis. The patient had persistenturinary tract infection and perforation of diverticula. T...