Left Multicystic Dysplastic Kidney Research Articles

A case of chronic kidney disease with refractory periodic vomiting and hypertension in a pediatric patient.

Patients with chronic kidney disease (CKD) sometimes experience gastrointestinal symptoms, such as nausea and vomiting. In addition, hypertension and CKD are closely linked, and sustained hypertension in children is associated with the progression of CKD, leading to early cardiomyopathy and premature atherosclerosis. These symptoms substantially affect the quality of daily life of CKD patients, and particularly in children with CKD, they may cause growth retardation. Therefore, establishing effective management methods to alleviate these symptoms is very important. Here, we report a case of a male patient who was born at 34weeks of gestation weighing 1400g. At birth, abdominal ultrasonography displayed left multicystic dysplastic kidney. From 6months after birth, he was frequently hospitalized owing to refractory periodic vomiting. At 9 months old, he was diagnosed as having stage 3a CKD, and at 20 months old, he presented with stage 2 high blood pressure. In Japan, the uremic toxin adsorbent AST-120 and angiotensin-converting enzyme inhibitor-I (ACE-I) are not strongly recommended for CKD patients. However, after the patient underwent combination therapy of AST-120 and ACE-I, his frequent hospitalizations for refractory periodic vomiting ceased, and his blood pressure decreased. These results indicate that AST-120 and ACE-I are effective for refractory periodic vomiting and hypertension associated with CKD. The patient's height, weight, and mental development are catching up smoothly. The cause of the patient's refractory periodic vomiting remains unclear. However, his impaired kidney function owing to congenital anomalies of the kidney and urinary tract may have caused the refractory periodic vomiting and dehydration. The production of uremic toxins in CKD patients is thought to lead to the secretion of proinflammatory cytokines into the circulation. However, our patient had low serum levels of proinflammatory cytokines, and his serum levels of the chemokines CX3CL1 and CCL2 decreased with age, together with improvement in his clinical course. Therefore, some specific chemokines might be diagnostic and/or prognostic biomarkers of CKD.

Main Physical Features, Echocardiographic and Renal Ultrasonographic Findings of Turner Syndrome in 107 Pediatric Patients

Turner syndrome (TS) is one of the most common malformation syndromes in females. A total number of 107 TS patients, diagnosed between 2000 and 2018, were evaluated for their phenotypic features, and cardiac and renal findings. The mean age of patients at admission was 10.08 ± 4.9 years (range, newborn to 18 years). Four different karyotype groups were encountered, and the most common findings in all groups were short stature, followed by cubitus valgus. Echocardiographic findings of 85 patients were available among which 63 (n = 63/85, 74.1%) were found to be normal. The most common cardiac anomaly was left ventricular outflow tract/aortic arch pathology detected in 9 patients (n = 9/22, 40.9%). Renal malformations were detected in 15 patients (n = 15/84, 17.9%) by renal ultrasonography, and horseshoe kidney was the most common renal malformation, followed by left multicystic dysplastic kidney. There was no significant difference in the frequency of renal malformation and cardiac anomalies among the 4different karyotype groups (χ² exact test, p > 0.05). Compared with the literature, the frequency of renal anomalies was detected at a lower rate. Karyotype analysis should be carried out in all female patients with short stature, even if there are no associated phenotypic findings suggestive of TS. Since cardiac anomalies are frequently seen in TS patients and they represent a common cause of mortality, echocardiography should be carried out as soon as the definite diagnosis is established. Renal anomalies may be less frequent than cardiac anomalies; however, evaluation of TS patients with renal ultrasonography should be done at the time of diagnosis. Although renal ultrasonography can be used as the initial renal screening in TS patients, it may underestimate the frequency of renal malformation; hence, further management may be required.

Laparoscopic transposition for crossing vessels (vascular hitch) in pure extrinsic pelvic-ureteric junction obstruction: a successful case report of a 2-year-old infant with horseshoe kidney

BackgroundPediatric hydronephrosis induced by pelvic-ureteric junction obstruction (PUJO) is treated by dismembered pyeloplasty (DP) via open and laparoscopic surgery. The etiology of PUJO involves both intrinsic stenosis and extrinsic compression of crossing vessels (CVs). PUJO owing to CVs is also treated by DP, as there is no consensus concerning this vascular condition. We encountered a 2-year-old infant with pure extrinsic PUJO combined with horseshoe kidney who successfully underwent laparoscopic transposition for CVs (vascular hitch).Case presentationA 2-year-old boy was prenatally diagnosed with left multicystic dysplastic kidney (MDCK) and right hydronephrosis and received a definitive diagnosis after birth. At 6 months old, renal scintigraphy revealed a non-functioning pattern in the left kidney and an obstructive pattern in the right, showing no response to furosemide loading. The patient also had recurrent urinary tract infection, and his right hydronephrosis gradually worsened. We decided to perform surgery for the right PUJO. Preoperative enhanced computed tomography detected three right renal vessels independently branching from the abdominal aorta. The middle renal vessels were located at the ventral side of the pelvis and coincident with the site of PUJO. These vessels were suspected of being CVs. The patient underwent laparoscopic surgery electively. A 5-mm trocar was inserted at the umbilicus for a 5-mm, 30° rigid scope. Two additional ports were then inserted under laparoscope inspection. The dilated right pelvis and CVs were detected after ascending colon mobilization. To confirm the pathogenesis of PUJO, the CVs were dissected and taped. After taping the CVs, an intraoperative diuretic test was performed using furosemide loading. Peristalsis of the right ureter was recognized, and the extrinsic PUJO owing to the CVs was definitively confirmed. We therefore performed transposition for the CVs (vascular hitch procedure). The CVs were mobilized in the cranial direction and those were wrapped by dilated pelvis. The post-operative course was uneventful. The renal scintigraphy findings improved and showed a favorable response of furosemide loading.ConclusionsThe laparoscopic vascular hitch procedure is minimally invasive and effective for extrinsic PUJO due to CVs. Anastomotic stricture after Anderson and Hynes DP can be prevented by appropriate patient selection.

Smith–magenis syndrome. A unique neonatal presentation among the Arab population

Smith–Magenis Syndrome (SMS) is a rare multisystem genetic disorder caused by a heterozygous deletion of or a heterozygous pathogenic variant in RAI1 on chromosome 17p11.2. characterized by the variable intellectual deficit, sleep disturbance, brachycephaly, midface hypoplasia, prognathism, hoarse voice, speech delay with or without hearing loss, psychomotor and growth retardation, cutaneous features, and behaviour problems. Our reported case is a term newborn diagnosed antenatally in the feto-maternal unit to have large multi-cystic dysplastic left kidney and unilateral cerebralventriculomegaly. The genetic disorder was suspected due to symmetric IUGR and dysmorphic features. Chromosomal micro-array confirmed the diagnosis of Smith-Magenis Syndrome.MRI brain confirmed Dandy-Walker spectrum malformation. Ultrasound abdomen showed left multi-cystic dysplastic kidney. Smith-Magenis Syndrome is usually diagnosed in childhood and little is known about its presentation in neonates especially in the Arab population. Our patient presented with Intra-cranial haemorrhage, seizures, thrombocytopenia, feeding difficulty, hypoglycemia and acute kidney injury; which all resolve before discharge.

Diagnostic value of ultrasound scan at 16 to 18 gestational weeks in euploid fetuses with increased nuchal translucency

Objective To investigate the diagnostic value of ultrasound scan at 16 to 18 gestational weeks in euploid fetuses with increased nuchal translucency (NT). Methods From January 2015 to June 2017, 214 fetuses diagnosed with increased NT thickness (NT ≥3.0 mm) during early pregnancy in Guangzhou Panyu Central Hospital were enrolled. Fetal chromosome karyotype analysis was carried out prenatally. Those cases with normal karyotype underwent ultrasound scan at 16-18 and 20-24 gestational weeks and their outcomes were followed up via telephone. Descriptive statistics was used for statistical analysis. Results There were 198 out of the 214 cases undergoing chromosome karyotype analysis and among them, 78 (39%) pregnancies were terminated due to chromosomal abnormalities. Out of the 107 cases with normal karyotype and successful follow-ups, 35%(37/107) had structural malformations. There were 19, 11 and 6 cases of fetal structural malformations diagnosed at 11-13+6, 16-18 and 20-24 weeks of gestational age, respectively, and the rest one was at 28 weeks. Structural deformities detected at 16-18 weeks included cleft lip and palate (n=2), cardiac malformations (n=2), spinal deformities (n=2), body deformities (n=2), diaphragmatic hernia (n=1), encephalocele (n=1) and left multicystic dysplastic kidney (n=1). About 91% (70/77) of the fetuses with normal karyotype but without abnormal ultrasound findings at 16-18 weeks were free of structural malformations and achieved good pregnant outcomes. Conclusions Ultrasound screening at 16 to 18 weeks of pregnancy can be used to detect multiple structural malformations in fetuses with increased NT and normal karyotype, which may contribute to early detection of fetal structural malformations and help gravidas and their families make timely decisions. Key words: Ultrasonography, prenatal; Nuchal translucency measurement; Pregnancy outcome

A new case of Casamassima-Morton-Nance (CMN) syndrome presenting prenatally as VACTERL association

Abstract Casamassima-Morton-Nance (CMN) syndrome (OMIM 271520) has clinical overlap with spondylocostal dysostosis and Vertebral, Anorectal, Cardiac, Tracheo-Esophageal, Radial/Renal, Limb (VACTERL) association but with consistent features of anal and urogenital abnormalities, particularly ambiguous genitalia. Since the original report, it has become clear that the combination of vertebral segmentation abnormalities, rib abnormalities, and urogenital anomalies may enable prenatal diagnosis of CMN by ultrasound. CMN syndrome is an important diagnosis to consider prenatally because of the generally poor prognosis compared to the more common VACTERL association. Here we present the seventh reported case of CMN syndrome. Prenatally presenting features of multiple segmentation anomalies within the spine, a left multi-cystic dysplastic kidney, marked pelvicaliectasis with abnormal renal parenchyma and a small stomach were suggestive of VACTERL association. There was severe oligohydramnios. Termination of pregnancy was performed at 22 weeks gestation and autopsy revealed dysmorphic coarse facial features, marked scoliosis, bilateral talipes, ambiguous external genitalia, and anal atresia. These features were highly suggestive of CMN syndrome. The important discriminating feature of ambiguous genitalia was not apparent on the prenatal ultrasound in this case because of severe oligohydramnios but we suggest that careful prenatal ultrasound assessment of the genitalia in cases of suspected VACTERL is important in differentiating these two conditions.

47, XY, +der(Y),t(X;Y)(p21.1;p11.2): A unique case of XY sex reversal

Translocations involving the short arms of the X and Y chromosomes are rare and can result in a functional disomy of the short arm of the X chromosome, including the dosage-sensitive sex reversal (DSS) locus. A result of such imbalance may be sex reversal with multiple congenital anomalies. We present the clinical and cytogenetic evaluation of a newborn infant with DSS and additional clinical findings of minor facial anomalies, left abdominal mass, 5th finger clinodactyly, and mild hypotonia. The external genitalia appeared to be normal female. The infant had bilateral corneal opacities and findings suggestive of anterior segment dysgenesis. Ultrasonography showed a small uterus with undetectable ovaries, and a left multicystic dysplastic kidney. High-resolution chromosome analysis identified the presence of a derivative Y chromosome, 47,XY, +der(Y)t(X;Y)(p21.1;p11.2), which was confirmed by fluorescence in situ hybridization studies. Array CGH showed a 35.1 Mb copy number gain of chromosome region Xp22.33-p21.1 and a 52.2 Mb copy number gain of Yp11.2-qter, in addition to the intact X and Y chromosomes. Previously reported patients with XY sex reversal have not had DSS with corneal opacities, dysgenesis of the anterior segment of the eye, and unilateral multicystic dysplastic kidney. These findings represent a new form of XY sex reversal due to an Xp duplication.

A familial case of multicystic dysplastic kidney

A familial case of multicystic dysplastic kidney (MCDK) is described. The proband is a one-year-old boy with left MCDK, and his father was also revealed to have unilateral MCDK. The mother had two abortions; the second pregnancy was terminated because of bilateral MCDK of the fetus (Potter anomaly). The two patients and the aborted male fetus did not have any malformations except for MCDK. Thus in this family MCDK occurs as an isolated phenomenon in three individuals within two generations, presumably as a result of autosomal dominant inheritance.

Pneumothorax in Pediatric Patients After Urological Laparoscopic Surgery: Experience With 4 Patients

Pneumothorax is a rare but known complication of adult urological laparoscopic surgery and has been described occasionally in children as well. The etiologies for pneumothorax during such procedures are discussed as is the management of pneumothorax in this setting. We investigate the occurrence of pneumothorax during laparoscopic pediatric urological procedures in children. Pneumothorax developed during urological laparoscopic procedures in 4 pediatric patients (3 females, 1 male). Patient age ranged from 8 months to 11 years (mean 5.4 years). Laparoscopic surgical procedures performed included right upper pole partial nephrectomy, left upper pole partial nephroureterectomy, removal of left multicystic dysplastic kidney and bilateral Cohen reimplantation of ureters. Procedures were performed with a maximum insufflation pressure of 15 mm Hg. During the same time period as these four cases, a total of 285 laparoscopic urologic procedures were performed at our institution. Pneumothorax was suspected due to decreased oxygen saturations, subcutaneous emphysema, increased respiratory effort and decreased chest lung sounds unilaterally. Pneumothorax was confirmed with chest x-rays. Operative time ranged from 171 to 249 minutes (mean 199.5). Duration of surgery before pneumothorax developed ranged from 75 to 239 minutes (mean 176, median 168). Conservative management of pneumothorax was used in 3 patients and a pigtail chest tube was used in 1. In all cases the estimated blood loss was minimal. Urologists performing laparoscopy in children should be aware of the possibility of a pneumothorax developing during the procedure. Evaluation for decrease in O2 saturation should include a search for pneumothorax in these patients. Close observation generally suffices for management.

Spontaneous Regression of Cystic Dysplasia of the Testis

A 9-year-old boy with left multicystic dysplastic kidney and the VATER (vertebral defects, imperforate anus, tracheoesophageal fistula, and radial and renal dysplasia) syndrome presented with an enlarging left testis, and negative serum -fetoprotein and -human chorionic gonadotropin. Because construction of a catheterizable stoma was planned, the patient underwent exploration rather than ultrasound. The left testis, including the rete testis, was cystic and measurement with calipers showed a size of 2.4 1.9 1.5 cm. (4.9 cc). Due to lesion proximity to the epididymis the testis was not biopsied but replaced in the scrotum. At age 9 years 8 months scrotal ultrasound showed that the left testis was 5 times larger than the right testis, that is 7.2 versus 1.3 cc according to the Lambert formula (fig. 1). At age 10 years 4 months testis volumes had increased to 8.8 and 1.9 cc, respectively. At age 11 years 8 months the left testis was 9.4 cc but the right had also enlarged to 4.8 cc. The areas of cystic dysplasia had completely resolved and were replaced by normal appearing parenchyma (fig. 2). At age 13 years the left testis was 8.7 cc and the right testis was 6.7 cc without evidence of recurrent cysts.

DIPHALLIA AND THE VATER ASSOCIATION

Diphallia or duplication of the penis is an extremely rare congenital abnormality1 that is usually associated with anomalies of other parts of the genitourinary tract and distant organs. Abnormalities of the male external genitalia frequently occur with the VATER association, which is diagnosed by at least 3 features, including vertebral anomalies, anal atresia, tracheoesophageal fistula with esophageal atresia and radial or renal defects. To our knowledge no case of diphallia and the VATER association has previously been described. CASE REPORT A male neonate born at 39 weeks of gestation and weighing 2,086 gm. presented with numerous anomalies. The parents were healthy and unrelated. There was no history of exposure to teratogens and no family history of abnormalities. Anomalies included tracheoesophageal fistula with esophageal atresia, imperforate anus (anocutaneous fistula), bilateral radial limb defects, cleft palate, patent ductus arteriosus, a single umbilical artery, right megaureter, left multicystic dysplastic kidney, bifid scrotum, left cryptorchidism and diphallia. The diagnosis was the VATER association. Patient karyotype was normal. The anterior penis was smaller than the posterior penis (fig. 1, A). Glanular hypospadias was noted in the posterior penis (fig. 1, B). Urine was expelled through each urethra. Ultrasonography revealed a corpus cavernosum and a corpus spongiosum in each penis. Shortly after birth we ligated and divided the tracheoesophageal fistula, created a primary anastomosis for esophageal atresia and performed a cutback procedure on the anocutaneous fistula. At 2 days of life right percutaneous nephrostomy was done, followed by loop cutaneous ureterostomy. Urography through the nephrostomy tube revealed 1 bladder and 2 urethras (fig. 2). The bladder appeared to be bilobed. Ductus arteriosus closed 2 months after birth. Cleft palate was repaired by the pushback method and left orchiopexy was done at age 2 years. Although each penis remained in place, the anterior penis should be removed. DISCUSSION It has been postulated that the etiology of the VATER association is a common defect in the early differentiating mesoderm. Abnormalities of the external genitalia in male individuals may be associated with this condition. Diphallia is a rare congenital anomaly caused by failure of migration or fusion of the mesoderm during early embryonic development. Because this anomaly represents an extreme disturbance in embryonic development, diphallia is usually associated with anomalies of distant organ systems as well as those of the genitourinary tract. In our patient ultrasonography revealed a corpus cavernosum and a corpus spongiosum in each penis. These findings were consistent with the definition of complete bifid phallus.2 Embryologically the VATER association may be caused by the disruption of processes that occur before day 35 of fetal development. Complete diphallia and associated anomalies appear to arise posteriorly and caudally before week 4 of gestation. Although theoretically diphallia should be common in patients with the VATER association because similar embryological defects exist during the same time, to our knowledge a case with both disorders has not previously been described. Since the initial description of the VATER association by Weaver et al,3 our understanding of this entity has evolved. In conclusion, we propose that diphallia should be considered a urological feature of the VATER association. REFERENCES

CONSERVATIVE MANAGEMENT OF CYSTIC DYSPLASIA OF THE TESTIS

Cystic dysplasia of the testis is an unusual lesion in boys that has been historically treated with radical orchiectomy. This benign testicular neoplasm, which is often associated with ipsilateral renal agenesis or dysplasia, has been treated successfully with testis sparing surgery in the past.1, 2 To our knowledge the optimal treatment of this benign neoplasm has not been determined. We present 2 unique conservative methods of managing cystic dysplasia of the testis. CASE REPORTS Case 1. A5 1 ⁄2-year-old boy presented with left testicular swelling and pain. Scrotal sonography demonstrated an enlarged testis with multiple cysts of various sizes in the central portion with an associated hydrocele (see figure). Renal sonography showed an absent left kidney. The patient underwent left inguinal exploration, enucleation of the testicular mass and hydrocelectomy. Histological examination of the testicular specimen revealed dilated, irregular cavernous spaces lined by cuboidal epithelium, consistent with cystic dysplasia. Testicular biopsy demonstrated completely normal histology and a normal total germ cell count. A nontender enlarged left testis was noted again 4 months postoperatively. Testicular sonography revealed multiple cysts with a compressed rim of normal parenchyma. The patient underwent repeat scrotal exploration. A testis sparing approach with excision of the testicular mass was again performed. Histological examination revealed cystic dysplasia of the testis as well as normal testicular tubules containing germ cells. Tamm-Horsfall protein was also noted in the specimen. Serial testicular ultrasound has shown no evidence of a further recurrence of cystic dysplasia and almost equal testicular size during 14 months of followup. Case 2. A 9-year-old boy with a history of the VATER syndrome and a left multicystic dysplastic kidney presented with an enlarged left testis. At exploration during surgery for fecal incontinence the posterior portion of the testis appeared cystic and the testis was 2.4 3 1.5 3 1.9 cm. using calipers. Due to the close proximity of adherent epididymis the tissue was not resected. Scrotal sonography 8 months postoperatively revealed a large left testis with multiple multiloculated cystic structures less than 1 cm. in diameter in the mid portion of the testis, consistent with cystic dysplasia. A small rim of normal parenchyma surrounded the cystic structures. On ultrasound the left and right testes were 3.21 3 1.79 3 1.77 and 1.45 3 1.26 3 1.00 cm., respectively. On scrotal sonography 17 months later the left and right testes had enlarged to 3.6 3 2.3 3 1.5 and 1.8 3 1.5 3 1.0 cm., respectively. In the left testis a new 5 mm. cystic lesion was observed along the lateral aspect that had not been previously seen. DISCUSSION

Benign fibrous histiocytoma of the proximal tibial epiphysis in a 12-year-old girl

A 12-year-old girl presented with a 3-week history of pain and tenderness in the left knee. The pain was worse on activity and was relieved, at least partly, by salicylates. There was no history of recent trauma. This child also had a stormy past history of imperforate anus and rectovaginal fistula repair, as well as a left multicystic dysplastic kidney which was removed. She had no fever and no contracture. The patellar tap was positive. The erythrocyte sedimentation rate was mildly elevated at 18 mm/h. A left knee effusion aspirate did not yield any bactelial growth and there was no sign of fungus, leukocyte, or tumor cells in the aspirate. Plain radiographs showed a small knee joint effusion as well as a lytic lesion measuring lx0.8 cm in the proximal tibial epiphysis (Fig. 1). There was no adjacent sclerosis and no periosteal calcification. Conventional tomography demonstrated the purely epiphyseal lytic lesion to better advantage. The lesion itself was very well circumscribed with a thin