Medullary sponge kidney

Medullary sponge kidney is a benign asymptomatic developmental anomaly of the kidney mostly seen in adult females. Presentation in childhood is uncommon. Urinary tract infection, nephrolithiasis, hematuria and hypercalciuria are the common complications. We report a eleven-year-old female child who presented with recurrent urinary tract infection and nephrolithiasis and was found to have bilateral medullary sponge kidney.     

Medullary sponge kidney

Medullary sponge kidney is a benign asymptomatic developmental anomaly of the kidney mostly seen in adult females. Presentation in childhood is uncommon. Urinary tract infection, nephrolithiasis, hematuria and hypercalciuria are the common complications. We report a eleven-year-old female child who presented with recurrent urinary tract infection and nephrolithiasis and was found to have bilateral medullary sponge kidney.     

Imaging in unilateral Wilms tumour

Wilms tumour is one of the most common malignancies in children, with an excellent prognosis after therapy. There is a very diverse approach to treatment according to geographical location. This variation in therapeutic attitude toward Wilms tumour, particularly between the United States and Europe, has consequences for the choice of imaging modality at diagnosis. In Europe, the International Society of Paediatric Oncology (SIOP) treatment protocol is based on chemotherapy followed by surgery. Imaging (US, CT and MRI), clinical history and examination will help predict whether the findings are consistent with Wilms tumour. Furthermore, in the UK preoperative image-guided biopsy is advised to help identify the small group of patients who, despite typical imaging features of Wilms tumour, have other types of neoplasia that require alternative management. In the United States, the National Wilms Tumor Study (NWTS) advises surgery prior to chemo- and radiotherapy. Hence imaging must provide detailed anatomical information for surgical planning. This article discusses the role of imaging at diagnosis and the relative strengths and weaknesses of the available radiological techniques. We also focus on imaging the lung for metastatic disease and the consequences (to the patient’s ultimate outcome) of CT-diagnosed small pulmonary nodules and discuss the radiological diagnosis and consequences of tumour rupture present at diagnosis.     

Nephropathy with Wilms tumour or gonadal dysgenesis: Incomplete Denys-Drash syndrome or separate diseases?

Abstract We report three children, one presenting with nephropathy, bilateral Wilms tumour (WT) and cryptorchism, one with combined nephropathy and gonadal dysgenesis and one with nephropathy which developed 13 years after a WT. The first case was recognized as typical Denys-Drash syndrome (DDS) which is characterized by the combination of nephropathy, intersex disorders and WT. The two other patients, who did not express the full spectrum of the syndrome, were older than 10 years, when they reached and stage renal failure. The fact that nephropathy in childhood is combined with such rare diseases like gonadal dysgenesis and/or WT, supports the concept of a common aetiology with DDS. Therefore, the patients were analysed for possible Wilms tumour suppressor gene (WT1) mutations. In all three individuals mutations in the heterozygous configuration could be demonstrated.Conclusion These results provide evidence that incomplete and complete DDS are diseases of the same spectru. WT1 analysis of more children with two symptoms of the triad of DDS should be helpful in establishing genotype-phenotype correlations and in understanding differences in the clinical picture of DDS.     

Medullary sponge kidney associated with distal renal tubular acidosis in a 5-year-old girl

Introduction Medullary sponge kidney (MSK) is characterized by cystic dilatation of the inner medullary collecting ducts, which causes the kidneys to resemble a sponge.Case report Although distal renal tubular acidosis (dRTA) is commonly observed in patients with MSK, we report a 5-year-old girl with MSK who had features of both dRTA (nephrocalcinosis, hypercalciuria, hypocitraturia) and proximal tubular dysfunction (hyperuricosuria, impaired tubular phosphate reabsorption and proteinuria).Discussion Metabolic acidosis, hypercalciuria, hypocitraturia, tubular phosphate reabsorption and growth retardation in the patient improved with alkali therapy.     

Wilms tumour in a patient with growth hormone replacement therapy

Wilms tumour was found in a Japanese boy aged 5 years 9 months with isolated growth hormone (GH) deficiency and some congenital anomalies. He had received pituitary GH replacement therapy from the age of 2 years 1 month to 4 years 7 months and after a 1 year interval he received biosynthetic GH for 2 months until the tumour became clinically apparent. This was the sixth known patient with GH deficiency to develop a malignant neoplasm during or after GH replacement therapy and the first with a solid tumour in Japan since 1975, when treatment with pituitary GH for patients with GH deficiency was introduced.     

Misleading leads: Wilms tumor with a metachronous lesion appearing in the remaining kidney

Medullary dysplasia may be present in the kidneys of children with the Beckwith-Wiedemann Syndrome (BWS). This is usually visible only at the microscopic level, but superimposed pyelonephritis in a child with the BWS led to gross changes that produced a filling defect on CT scanning of the remaining kidney. The finding could have been misinterpreted as a metachronous wilms tumor. Med. Pediatr. Oncol. 30:180–182, 1998. © 1998 Wiley-Liss, Inc.     

An 11‐year experience of acquired von Willebrand syndrome in children diagnosed with Wilms tumour in a tertiary referral centre

Wilms tumour (WT) is the commonest primary malignant renal tumour of childhood. Acquired von Willebrand syndrome (avWS) is a well‐described paraneoplastic phenomenon, but it is uncommon and may not be detected until clinically significant bleeding is encountered during interventional procedures. Previous studies on small cohorts of patients have determined an incidence of between 4 and 8%. We have performed a retrospective study on cases of WT presenting over an 11.5‐year period to a paediatric haematology/oncology unit in a tertiary referral centre to review the incidence of avWS, bleeding phenotype, management, and response to treatment of the primary pathology.     

Renal growth in patients nephrectomized for Wilms tumour as compared to renal agenesis

Compensatory growth in 27 undiseased congenital solitary kidneys and in 31 solitary kidneys in patients with Wilms tumour was monitored in long-term follow-up studies by ultrasound volume biometry. In congenital solitary kidneys hypertrophy was not detectable at the time of birth. Parenchymal mass increase achieved 188% of the volume of a healthy kidney within at least 4 years of life and afterwards paralleled the physiological growth documented in healthy kidney pairs. Disease-free kidneys in Wilms tumour patients all developed a similar 180% volume augmentation within 2–4 years after nephrectomy, irrespective of the chosen mode of radiation and single or tripte chemotherapy. The age of the patient at onset of surgical and concomitant conservative therapy determined slight differences in kinetics but not in degree of compensatory growth.Abbreviations ACD actinomycin-D - VCR vincristin - ADM adriamycin     

Screening for wilms' tumour in patients with aniridia,Beckwith syndrome,or hemihypertrophy

The role of screening for early detection of Wilms' tumour (WT) in patients with aniridia (A), Beckwith-Weidemann syndrome (BWS) and hemihypertrophy (HH) has been explored. Of the 1,622 Wilms' tumour patients registered with the National Childhood Cancer Registry from 1971 to 1991, 41 were recorded as having A, BWS or HH. Twenty-eight of these had their anomaly diagnosed before the WT and 13 had screening procedures carried out, mainly abdominal ultrasound. In 8 patients the screening procedure detected the WT. There was no significant difference in stage distribution or outcome for any of the three subgroups who were not screened, screen-positive or screen-negative. We conclude that regular screening with abdominal ultrasound is not of proven value. Parents should be taught abdominal palpation and advised to seek appropriate advice for untoward symptoms. © 1995 Wi1ey-Liss Inc.     

Analysis of paediatric tumour types associated with hemihyperplasia in childhood

In order to further explore the relationship between hemihyperplasia in children and the occurrence of embryonal tumours of childhood, the records at St Jude Children's Research Hospital were examined for patients who presented with a malignant tumour and hemihyperplasia. Of 27 evaluable patients, 19 had Wilms' tumour and one had massive bilateral nephroblastomatosis. The tumours were more likely to occur on the side affected by hemihyperplasia than to be found contralaterally. All but five of these patients developed the tumours before, the age of six. Twenty-two of the 27 patients developed tumours associated with allelic loss on chromosome band 11p15, suggesting that the locus associated with hemihyperplasia may be also located at chromosome band 11p15.     

Beckwith-Wiedemann (Exomphalos-Macroglossia-Gigantism—EMG) syndrome and malignant lymphoma

Although the Beckwith-Wiedemann (Exomphalos-Macroglossia-Gigantism) syndrome is felt to be a pre-malignant disorder, its association with lymphoma has not previously been noted. In this report we describe a child with the EMG syndrome who developed a disseminated diffuse lymphoma. Incidentally, he was found to be chronically infected with cytomegalovirus.     

Reversible obstructive hypertrophic cardiomyopathy in the Beckwith-Wiedemann syndrome

Summary Patients with the Beckwith-Wiedemann (B-W) syndrome have been reported to have an increased risk of congenital heart disease and of idiopathic cardiomegaly on chest x-ray. In the infant described here, reversible obstructive hypertrophic cardiomyopathy was documented and its relationship to the metabolic features of the B-W syndrome is discussed.     

Beckwith-Wiedemann syndrome and bilateral adrenal pheochromocytoma: sonography and MRI findings

Beckwith-Wiedemann syndrome is characterized by a group of clinical abnormalities, the most frequent of which are omphalocele, macroglossia, gigantism, neonatal hypoglycemia and umbilical hernia. The association of this syndrome with malignant tumors is well documented. We report a child with this syndrome associated with bilateral adrenal pheochromocytoma.