Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0020438 (hypercalciuria)
 2,502 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The differential diagnosis of hematuria with or without proteinuria is extensive, and isolated hematuria is a common problem in children and adolescents. Extensive evaluation is often necessary for the child presenting with macroscopic plus microscopic hematuria including nonglomerular and glomerular etiologies, while children with only isolated microscopic hematuria can generally be followed after baseline evaluation to rule out infection, hypercalciuria, familial hematuria, sickle cell disease, post-streptococcal glomerulonephritis (GN), and structural abnormalities (cysts, stones, obstruction, Wilms tumor). Children with the combination of hematuria and proteinuria require rapid systematic evaluation, generally including renal biopsy, except in cases where post-streptococcal GN can be clearly documented. Post-streptococcal GN occurs 7-21 days after a streptococcal infection, is associated with an acute fall in C3 levels with return to normal by approximately 8 weeks, rarely causes acute renal failure, and in children has a pattern of gradual resolution of hypertension, hematuria, and proteinuria over a course of 6-12 months.
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PMID:Asymptomatic hematuria in childhood: a practical approach to evaluation. 1079 63

Asymptomatic haematuria is not an uncommon problem in children and adolescents. Isolated haematuria even when gross is less sinister than haematuria associated with proteinuria. Extensive evaluation is usually not necessary in such cases and they can generally be followed up after careful evaluation to rule out urinary tract infection, hypercalciuria, familial (benign) haematuria, and structural abnormalities (cysts, stones, obstruction, Wilms' tumour). Patients with various forms of glomerulonephrtis usually have associated proteinuria and may require renal biopsy. Intravenous pyelography, cystoscopy and renal angiography should be carried out when very clearly indicated.
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PMID:Asymptomatic haematuria in children. 1220 56

Beckwith-Wiedemann syndrome (BWS), an overgrowth disorder with several congenital abnormalities, encompasses nephrourological anomalies. The objective of the report is to analyze the latter and related genotype-phenotype correlations. The study was a retrospective review of nephrourological investigations and genotype in 67 BWS patients. Imaging and laboratory studies have been correlated with the molecular anomalies typical of BWS. Thirty-eight (56.7%) patients had a total of 61 nonmalignant nephrourological findings, including nephromegaly (n = 24), collecting system abnormalities (n = 14), cryptorchidism (n = 11), nephrolithiasis (n = 5), cysts (n = 5), and dysplasia (n = 1). Four patients had Wilms' tumor, all associated with renal hyperplasia. Renal findings were almost consistent in the BWS(IC1) group, with nephromegaly in all patients and collecting system abnormalities in half of them. BWS(UPD) and negative patients also had frequent anomalies (63.6% and 61.9% respectively), whereas only 36.0% of BWS(IC2) had renal findings (p = 0.003). Cryptorchidism was associated with abdominal wall defects (p < 0.001) appearing more frequently in BWS(IC2) (p = 0.028). Urinary tract infections were observed in 17.9% of patients, with two resulting in life-threatening sepsis. Hypercalciuria was present in 10% of cases. 55.5% of BWS patients have renal findings. Although variegate, these anomalies disclose a genotype-phenotype correlation.
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PMID:Nephrological findings and genotype-phenotype correlation in Beckwith-Wiedemann syndrome. 2201 20

Renal disease in hospitalized children can be difficult to diagnose early as it may exhibit few symptoms, unlike in adults. This study reports the epidemiological data, percentages and types of renal disorders in children seen at the pediatric nephrology center of the AlKadhymia Teaching Hospital, Baghdad, Iraq. A retrospective review of the charts of all patients, aged between one month and 14 years, who were admitted and followed-up for a period of three years from January 2009 till January 2012 were studied. The presence of renal disease based on their clinical records, laboratory tests and final diagnosis were noted. A total of 4785 children were admitted during the study period, of whom 326 renal disorders were observed in 281 children (5.8%). The affected children included 158 males (56.2%) and 123 females (43.7%). Majority of the cases were above two years of age (n = 181; 64.4%). Among them, urinary tract infection, seen in 60 patients (18.4%), was the most common renal disease, followed by nephrotic syndrome (n = 52; 15.9%), renal stone disease (n = 49; 15%), congenital malformations (n = 46; 14.1%), acute renal failure (n = 37; 11.3%), chronic renal failure (n = 22; 6.7%), glomerulonephritis (n = 16; 4.9%), isolated hematuria (n = 14; 4.2%), hypertension (n = 8; 2.4%), tubular disorders [renal tubular acidosis (n = 8; 2.4%), isolated hypercalciuria (n = 7; 2.1%), Bartter syndrome (n = 1; 0.3%)] and Wilm's tumor in six (1.8%) patients. The spectrum of renal disorders in Iraq is wide, and is similar to those reported from other developing countries with a predominance of infectious diseases.
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PMID:Profile of renal diseases in Iraqi children: A single-center report. 2602 43