We describe a child with the rare clinical entity of female pseudohermaphroditism,accessory phallic urethra,and posterior cloaca who was successfully treated with posterior sagittal anorectovaginourethroplasty. Mascul...We describe a child with the rare clinical entity of female pseudohermaphroditism,accessory phallic urethra,and posterior cloaca who was successfully treated with posterior sagittal anorectovaginourethroplasty. Masculinization was limited to the external genitalia,and no chromosomal,metabolic,or adrenal abnormalities were detected. Associated pathology included bilateral vesicoureteric reflux,a non functioning dysplastic kidney,and bicornuate uterus. The investigation and surgical management of this particularly challenging combination of anomalies is detailed.展开更多
Angiotensin I-converting enzyme (ACE) and angiotensin type 2 receptor (AT2R) gene polymorphisms have been associated with an increased incidence of congenital anomalies of the kidney and urinary tract (CAKUT).We inves...Angiotensin I-converting enzyme (ACE) and angiotensin type 2 receptor (AT2R) gene polymorphisms have been associated with an increased incidence of congenital anomalies of the kidney and urinary tract (CAKUT).We investigated the genotype distribution of these polymorphisms in Italian children with CAKUT.We also evaluated the association between the ACE insertion/deletion and the AT2R gene polymorphisms with the progression of renal damage in subgroups of CAKUT patients.We recruited 102 Italian children with CAKUT; 27 with vesicoureteral reflux; 12 with hypoplastic kidneys; 20 with multicystic dysplastic kidneys; 13 with ureteropelvic junctions stenosis/ atresia; 18 with nonobstructed, nonrefluxing primary megaureters; and 12 with posterior urethral valves and compared them with 92 healthy control subjects.ACE and AT2R gene polymorphisms were analyzed by PCR.The identification of AT2R gene polymorphisms in intron 1 and in exon 3 was revealed by enzymatic digestion.ACE genotype distribution in children with CAKUT was no different from that of the control subjects, but the subgroup of patients with radiographic renal parenchymal abnormalities showed an increased occurrence of the D/D genotype.The frequency of the G allele of AT2R gene in children with CAKUT was increased in respect to that of the control subjects.By contrast, no significant difference in the frequency of the C and A alleles of the AT2R gene was found.Our findings indicate that the ACE gene can be a risk factor in the progression of renal parenchymal damage in CAKUT patients.Moreover, a major role of the AT2R gene in the development of CAKUT has been found, at least in Italian children.展开更多
文摘We describe a child with the rare clinical entity of female pseudohermaphroditism,accessory phallic urethra,and posterior cloaca who was successfully treated with posterior sagittal anorectovaginourethroplasty. Masculinization was limited to the external genitalia,and no chromosomal,metabolic,or adrenal abnormalities were detected. Associated pathology included bilateral vesicoureteric reflux,a non functioning dysplastic kidney,and bicornuate uterus. The investigation and surgical management of this particularly challenging combination of anomalies is detailed.
文摘Angiotensin I-converting enzyme (ACE) and angiotensin type 2 receptor (AT2R) gene polymorphisms have been associated with an increased incidence of congenital anomalies of the kidney and urinary tract (CAKUT).We investigated the genotype distribution of these polymorphisms in Italian children with CAKUT.We also evaluated the association between the ACE insertion/deletion and the AT2R gene polymorphisms with the progression of renal damage in subgroups of CAKUT patients.We recruited 102 Italian children with CAKUT; 27 with vesicoureteral reflux; 12 with hypoplastic kidneys; 20 with multicystic dysplastic kidneys; 13 with ureteropelvic junctions stenosis/ atresia; 18 with nonobstructed, nonrefluxing primary megaureters; and 12 with posterior urethral valves and compared them with 92 healthy control subjects.ACE and AT2R gene polymorphisms were analyzed by PCR.The identification of AT2R gene polymorphisms in intron 1 and in exon 3 was revealed by enzymatic digestion.ACE genotype distribution in children with CAKUT was no different from that of the control subjects, but the subgroup of patients with radiographic renal parenchymal abnormalities showed an increased occurrence of the D/D genotype.The frequency of the G allele of AT2R gene in children with CAKUT was increased in respect to that of the control subjects.By contrast, no significant difference in the frequency of the C and A alleles of the AT2R gene was found.Our findings indicate that the ACE gene can be a risk factor in the progression of renal parenchymal damage in CAKUT patients.Moreover, a major role of the AT2R gene in the development of CAKUT has been found, at least in Italian children.
