Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0020538 (hypertension)
 170,190 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The risk of metabolic late effects after childhood cancer, such as obesity, hypertension, and diabetes, can be positively influenced by a healthy lifestyle with sufficient physical activity. Nevertheless, studies on physical activity in adult survivors of childhood cancer are scarce and involve different and often nonvalidated questionnaires. We used the Short QUestionnaire to ASsess Health-enhancing physical activity (SQUASH), which was developed and validated to assess daily life physical activity in the Dutch adult population. The aim of the study was to assess daily life physical activity in Dutch adult long-term nephroblastoma and neuroblastoma survivors. Sixty-seven nephroblastoma and 36 neuroblastoma survivors (median age, 30 y; range, 18 to 51 y) and 60 sociodemographically similar healthy control subjects (median age, 32 y; range, 18 to 62 y) were asked to complete the SQUASH during their regular follow-up visit. The adjusted mean physical activity score in male neuroblastoma survivors (mean, 7155; P=0.004) was significantly lower than in male controls (mean, 10,574), whereas it was not significantly lower in male nephroblastoma survivors (mean, 9122; P=0.108). Adjusted means for physical activity scores in females were not different from their controls. In conclusions, male neuroblastoma survivors were identified as performing less daily physical activity.
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PMID:Daily life physical activity in long-term survivors of nephroblastoma and neuroblastoma. 2338 2

Osteopontin (OPN) expression has been reported to be elevated in experimental models of renal injury such as arterial hypertension or diabetic nephropathy finally leading to focal segmental glomerulosclerosis (FSGS). FSGS is characterized by glomerular matrix deposition and loss or damage of podocytes that represent the main constituents of the glomerular filtration barrier. To evaluate the role of OPN in the kidney we investigated WT and OPN knockout mice (OPN-/-) without treatment, after uninephrectomy (UNX), as well as after UNX and desoxycorticosterone acetate (DOCA)-salt treatment with respect to urine parameters, glomerular morphology, and expression of podocyte markers. OPN-/- mice showed normal urine parameters while a thickening of the glomerular basement membrane was evident. Intriguingly, following UNX, OPN-/- mice exhibited prominent FSGS, proteinuria, and glomerular matrix deposition. Electron microscopy revealed bulgings of the glomerular basement membrane and occasionally an effacement of podocytes. After UNX and DOCA-salt treatment, severe glomerular lesions as well as proteinuria and albuminuria were seen in WT and OPN-/- mice. Moreover, we found a reduction of specific markers such as Wilm's tumor-1, podocin, and synaptopodin in both experimental groups indicating a loss of podocytes. Podocyte damage was accompanied by increased number of Ki-67-positive cells in the parietal epithelium of Bowman's capsule. We conclude that OPN plays a crucial role in adaptation of podocytes following renal ablation and is renoprotective when glomerular mechanical load is increased.
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PMID:OPN deficiency results in severe glomerulosclerosis in uninephrectomized mice. 2355 65

Although cancer in children is rare, it is the second most common cause of childhood mortality in developed countries. It often presents with nonspecific symptoms similar to those of benign conditions, leading to delays in the diagnosis and initiation of appropriate treatment. Primary care physicians should have a raised index of suspicion and explore the possibility of cancer in children who have worrisome or persisting signs and symptoms. Red flag signs for leukemia or lymphoma include unexplained and protracted pallor, malaise, fever, anorexia, weight loss, lymphadenopathy, hemorrhagic diathesis, and hepatosplenomegaly. New onset or persistent morning headaches associated with vomiting, neurologic symptoms, or back pain should raise concern for tumors of the central nervous system. Palpable masses in the abdomen or soft tissues, and persistent bone pain that awakens the child are red flags for abdominal, soft tissue, and bone tumors. Leukokoria is a red flag for retinoblastoma. Endocrine symptoms such as growth arrest, diabetes insipidus, and precocious or delayed puberty may be signs of endocranial or germ cell tumors. Paraneoplastic manifestations such as opsoclonus-myoclonus syndrome, rheumatic symptoms, or hypertension are rare and may be related to neuroblastoma, leukemia, or Wilms tumor, respectively. Increased suspicion is also warranted for conditions associated with a higher risk of childhood cancer, including immunodeficiency syndromes and previous malignancies, as well as with certain genetic conditions and familial cancer syndromes such as Down syndrome, Li-Fraumeni syndrome, hemihypertrophy, neurofibromatosis, and retinoblastoma.
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PMID:Signs and symptoms of childhood cancer: a guide for early recognition. 2393 97

Medical records of 30 children with renal tumor diagnosed at Siriraj Hospital during 1996 to 2007 were reviewed. Mean age at diagnosis was 36 months; male to female ratio was 1.7:1. Clinical manifestations included abdominal mass (96.7%), hypertension (40.0%), abdominal pain (36.7%), hematuria (26.7%), postrenal obstruction (16.7%), and proteinuria (13.3%). Eight patients had Denys-Drash malformations, WAGR, Dandy-Walker malformation, or genitourinary anomalies. Twenty-seven patients (90%) had Wilms tumor. Sixteen patients were stage 3 or more at diagnosis. Rhabdoid tumor was found in 3 patients. All patients received chemotherapy, 13 patients also received radiation therapy. Acute complications included febrile neutropenia (44.4%), hypokalemia (37.0%), hyponatremia (29.6%), Fanconi syndrome (11.1%), urinary tract Infection (10.0%), and acute renal failure (7.4%). Mean follow-up time was 57.2 months. Ten patients died from progressive disease. Five-year patient survival was 69.7%. Two patients had chronic kidney disease. One of these had Denys-Drash malformations. Both patients received ifosfamide-carboplatin-etoposide protocol and abdominal radiation. Antihypertensive medications were needed in 9 patients for a mean duration of 164 days. None had persistent proteinuria or hematuria. No difference was found among mean estimated glomerular filtration rate at diagnosis, 1 year after treatment, and at last follow-up. Long-term follow-up, especially renal function, is recommended.
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PMID:Long-term outcome in pediatric renal tumor survivors: experience of a single center. 2415 88

WT1 mutations cause a wide spectrum of renal and extrarenal manifestations. Here we evaluated disease prevalence, phenotype spectrum, and genotype-phenotype correlations of 61 patients with WT1-related steroid-resistant nephrotic syndrome relative to 700 WT1-negative patients, all with steroid-resistant nephrotic syndrome. WT1 patients more frequently presented with chronic kidney disease and hypertension at diagnosis and exhibited more rapid disease progression. Focal segmental glomerulosclerosis was equally prevalent in both cohorts, but diffuse mesangial sclerosis was largely specific for WT1 disease and was present in 34% of cases. Sex reversal and/or urogenital abnormalities (52%), Wilms tumor (38%), and gonadoblastoma (5%) were almost exclusive to WT1 disease. Missense substitutions affecting DNA-binding residues were associated with diffuse mesangial sclerosis (74%), early steroid-resistant nephrotic syndrome onset, and rapid progression to ESRD. Truncating mutations conferred the highest Wilms tumor risk (78%) but typically late-onset steroid-resistant nephrotic syndrome. Intronic (KTS) mutations were most likely to present as isolated steroid-resistant nephrotic syndrome (37%) with a median onset at an age of 4.5 years, focal segmental glomerulosclerosis on biopsy, and slow progression (median ESRD age 13.6 years). Thus, there is a wide range of expressivity, solid genotype-phenotype associations, and a high risk and significance of extrarenal complications in WT1-associated nephropathy. We suggest that all children with steroid-resistant nephrotic syndrome undergo WT1 gene screening.
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PMID:Genotype-phenotype associations in WT1 glomerulopathy. 2440 88

The primary intrarenal neuroblastoma (IRNB) is a rare condition. Intrarenal neuroblastoma typically results from direct renal invasion from an adrenal neuroblastoma, but true intrarenal neuroblastoma originates either sequestered adrenal rests during the fetal life or intrarenal sympathetic ganglia. Clinical, radiological, and pathological correlation is very essential for diagnosis and appropriate management of this type of unusual cases. The distinction of this rare tumor from Wilms' tumor is an important challenge since both tumors have major differences in prognostic and therapeutic response. We present a 3-year-old boy of primary intrarenal neuroblastoma with extensive abdominal and mediastinal mass, persistent hypertension, and disseminated intravascular coagulation (DIC).
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PMID:Primary intrarenal neuroblastoma with hypertension and disseminated intravascular coagulation. 2441 5

Various fetal or placental disorders cause Ballantyne's (mirror) syndrome. For the first time, we report a maternal manifestation of Ballantyne's syndrome occurring concomitantly with the development of fetal congenital mesoblastic nephroma (CMN). In a pregnant woman with a CMN fetus, lung edema, hypertension, hyperthyroidism, and high serum human chorionic gonadotrophin level occurred, all of which characterize maternal manifestation of Ballantyne's syndrome. The fetus and placenta were devoid of 'edema', lacking 'triple edema', and thus this condition was not diagnosed as Ballantyne's syndrome; however, we considered this condition as the maternal manifestation of Ballantyne's syndrome. We performed emergent cesarean section at 28 weeks. Delivery acutely ameliorated maternal symptoms. Tumor was resected and was confirmed as CMN. Maternal manifestations of Ballantyne's syndrome, such as lung edema and hypertension, can occur in a mother with fetal CMN even without fetal and/or placental edema. The clinical course of this patient may suggest an etiology of Ballantyne's syndrome.
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PMID:Maternal manifestation of Ballantyne's syndrome occurring concomitantly with the development of fetal congenital mesoblastic nephroma. 2442 71

Abstract Cushing syndrome is caused by prolonged exposure to elevated serum cortisol. It is uncommon in children, and etiology includes pituitary adenoma, adrenal tumor, and exogenous glucocorticoid administration. Rarely, it is paraneoplastic in origin. We present a case of paraneoplastic Cushing syndrome due to Wilms tumor that secreted corticotropin-releasing hormone (CRH). A 6-year-old male presented with polyphagia and weight gain. He showed Cushingoid appearance, hypertension, and palpable left flank mass. Serum cortisol and adrenocorticotropic hormone (ACTH) levels were elevated. Computed tomography showed a neoplasm originating from the left kidney. Pathologic diagnosis of Wilms tumor was made upon nephroureterectomy. Immunohistochemical staining was positive for CRH and negative for ACTH. All features of Cushing syndrome disappeared after surgery. This represents a rare case of Cushing syndrome secondary to Wilms tumor in which CRH production has been demonstrated.
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PMID:Cushing syndrome secondary to CRH-producing Wilms tumor in a 6 year old. 2515 73

In mammals, formation of new nephrons ends perinatally due to consumption of mesenchymal progenitor cells. Premature depletion of progenitors due to prematurity or postnatal loss of nephrons due to injury causes chronic kidney disease and hypertension. Intensive efforts are currently invested in designing regenerative strategies to form new nephron progenitors from pluripotent cells, which upon further differentiation provide a potential source of new nephrons. To know if reprogramed renal cells can maintain their identity and fate requires knowledge of the epigenetic states of native nephron progenitors and their progeny. In this article, we summarize current knowledge and gaps in the epigenomic landscape of the developing kidney. We now know that Pax2/PTIP/H3K4 methyltransferase activity provides the initial epigenetic specification signal to the metanephric mesenchyme. During nephrogenesis, the cap mesenchyme housing nephron progenitors is enriched in bivalent chromatin marks; as tubulogenesis proceeds, the tubular epithelium acquires H3K79me2. The latter mark is uniquely induced during epithelial differentiation. Analysis of histone landscapes in clonal metanephric mesenchyme cell lines and in Wilms tumor and normal fetal kidney has revealed that promoters of poised nephrogenesis genes carry bivalent histone signatures in progenitors. Differentiation or stimulation of Wnt signaling promotes resolution of bivalency; this does not occur in Wilms tumor cells consistent with their developmental arrest. The use of small cell number ChIP-Seq should facilitate the characterization of the chromatin landscape of the metanephric mesenchyme and various nephron compartments during nephrogenesis. Only then we will know if stem and somatic cell reprogramming into kidney progenitors recapitulates normal development.
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PMID:Epigenetic States of nephron progenitors and epithelial differentiation. 2556 Apr 33

The authors report the case of a 7-month-old girl with unilateral Wilms tumor with dilated cardiomyopathy, leading to cardiac failure and requiring intensive care. After chemotherapy and tumor removal, cardiac function has improved. This is a rare report on the association between nephroblastoma and dilated cardiomyopathy without hypertension.
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PMID:Dilated Cardiomyopathy Caused by Wilms Tumor. 2562 41


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