1/6. Polycystic kidneys and del (4)(q21.1q21.3): further delineation of a distinct phenotype.A three year-old boy was evaluated because of growth and developmental delay, hypotonia and dysmorphic features. G-banding analysis revealed a small interstitial deletion of the long arm of chromosome four described as 46,XY,del (4)(q21.1q21.3). This patient's findings on physical exam included relative macrocephaly, frontal bossing, short fingers with clinodactyly and were consistent with the phenotypes of previously reported deletions involving the 4q21--> 4q22 band region (Am. J. Med. Genet. 68 (1997) 400-405). To date there are 10 reported live-born cases with such deletions and similar features. The case reported here delimits a minimal critical region for this phenotype to chromosomal region 4q21. Our patient was also found to have cysts in both his kidneys. The gene for type II polycystic kidney disease (PKD2) has been mapped to chromosomal region 4q21--> 4q23. FISH analysis, with a probe including the PKD2 gene, demonstrated hemizygosity at this locus. Thus the absence of one of the PKD2 alleles in the case reported here is associated with early bilateral cyst development. kidney ultrasound/autopsy studies were reported in seven of the patients with the characteristic phenotype, and were positive for cysts in four cases including the one presented here (Clin. Genet. 31 (1987) 199-205; Am. J. Med. Genet. 68 (1997) 400-405; Am. J. Med. Genet. 40 (1991) 77-790. Our report supports the presence of a distinct phenotype associated with a deleted chromosomal region within 4q21. Hemizygosity for the PKD2 gene is likely in such deletions and may lead to renal cyst formation.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
2/6. Nephronophthisis in two siblings.We describe here two sisters with nephronophthisis, which was not detected until the development of endstage renal failure. Twenty- and 15-year-old female siblings were admitted to our hospital for further examination of renal dysfunction. No urinalysis abnormalities had been found in yearly health checks in either patient. The serum creatinine level was 7.2 mg/dl in case 1 (the 20-year-old) and 6.4 mg/dl in case 2. Medical history, physical findings, and laboratory tests showed no evidence of urinary tract infection, use of any drugs, arthritis, or skin eruptions. To identify the cause of the renal failure, open left renal biopsies were performed in both patients. Histopathological findings were very similar in the two patients and included marked tubular and interstitial changes (tubular dilatation, focal tubular atrophy, interstitial fibrosis, and infiltration of mononuclear cells). The glomeruli were devoid of mesangial proliferation, mesangial expansion, and adhesion of Bowman's capsule. Based on the clinical and pathological findings, the final diagnosis was nephronophthisis in both patients. It is important to remember that some progressive renal diseases, including nephronophthisis, cannot be detected even by annual urinary screening tests, which are widely performed in japan.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
3/6. Wilms' tumor in a multilocular cyst of the kidney (cystic Wilms' tumor).A 2-year-old boy had a Wilms' tumor of the left kidney that appeared during physical examination as an abdominal mass and on gross examination as a multilocular cyst. Multilocular cyst of the kidney is a rare but distinctive congenital lesion. Its true biologic behavior is unknown. Although simple nephrectomy is sufficient for most lesions, more aggressive procedures are recommended for those lesions that contain Wilms' tumor (cystic Wilms' tumor).- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
4/6. Organic manic syndrome associated with advanced uraemia due to polycystic kidney disease.Mania secondary to advanced uraemia caused by polycystic disease of the kidneys in a 62-year-old woman involved a complex interplay of physical, psychological and social factors. psychotherapy and thioridazine led to full recovery.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
5/6. Localization of abscess in adult polycystic kidney by indium-111 leukocyte scan.In patients with adult polycystic kidney disease (APKD) infected cysts are difficult to localize with current radiographic techniques, especially those dependent on renal function. indium-111 leukocyte (In-WBC) imaging is both highly sensitive and effective in detecting and localizing abscesses in patients with renal failure. We report on a patient with APKD and sepsis in whom computed tomography, ultrasound, and physical examination failed to locate the renal abscess, which was found by In-WBC scanning.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
6/6. Polycystic kidneys as the presenting feature of tuberous sclerosis.tuberous sclerosis is an inherited neurocutaneous disorder characterized by seizures, mental retardation, cutaneous lesions and visceral hamartomas. We describe a 17-year-old boy in whom polycystic kidneys of the adult type were fortuitously detected on routine check-up. The patient enjoyed good health and had no evidence of renal dysfunction. Closer scrutiny of his past history and his physical and laboratory findings disclosed that he had tuberous sclerosis. Our case adds to the scant reported experience with the association of tuberous sclerosis and adult-type polycystic kidneys, and suggests that a search of additional manifestations of tuberous sclerosis is warranted in children in whom adult-type polycystic renal disease is detected.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |