Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0451641 (urolithiasis)
 3,973 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Urolithiasis is one of the commonest problems in pediatric nephrology. Prevalence of urolithiasis in pediatric patients is increasing. The purpose was to properly diagnose and treat with the special attention to the risk factors. This study is case-series and was performed on 100 pediatric patients for evaluation of clinical manifestation and etiology of renal stone in Qom. Hundred Children, fewer than 14 years old with mean age of 3.32 years, were included (54% male). Etiology of urolithiasis in 5% was unclear. Metabolic disorders found in patients were mainly: Hypocitraturia in 54, hyperoxaluria in 14, hyperuricosuria in 25, cystinuria in 6, hypercalciuria in 28 and phosphaturia in 8 patients. The main clinical presentation was fever, pain, irritability, dysuria and hematuria. Family history of urolithiasis was found in 23% of patients and 54% presented with urinary tract infection (UTI). We conclude that majority of patients were symptomatic and hypocitraturia was the commenest risk factor among others.
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PMID:Clinical manifestations and etiology of renal stones in children less than 14 years age. 2006 21

Although extracorporeal shockwave lithotripsy (ESWL) is one of the primary treatments for urolithiasis, very often residual fragments of the calculi are still present for a long time after the ESWL session. These fragments are usually asymptomatic and can be managed expectantly, but sometimes they can cause symptoms and require intervention. Secondary procedures are not routinely applied to all patients with residual fragments, but only to those with significant symptoms. Medical therapy may play an important role in the management of residual fragments, by correcting an underlying metabolic disorder and by preventing the growth of residual calculi and the formation of new ones.
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PMID:Post-extracorporeal shockwave lithotripsy residual stone fragments: clinical significance and management. 2232 Oct 17

Complete adenine phosphoribosyltransferase (APRT) deficiency is a rare inherited metabolic disorder that leads to the formation and hyperexcretion of 2,8-dihydroxyadenine (DHA) into urine. The low solubility of DHA results in precipitation of this compound and the formation of urinary crystals and stones. The disease can present as recurrent urolithiasis or nephropathy secondary to crystal precipitation into renal parenchyma (DHA nephropathy). The diagnostic tools available-including stone analysis, crystalluria, and APRT activity measurement-make the diagnosis easy to confirm when APRT deficiency is suspected. However, the disease can present at any age, and the variability of symptoms can present a diagnostic challenge to many physicians. The early recognition and treatment of APRT deficiency are of crucial importance for preventing irreversible loss of renal function, which still occurs in a non-negligible proportion of cases. This review summarizes the genetic and metabolic mechanisms underlying stone formation and renal disease, along with the diagnosis and management of APRT deficiency.
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PMID:Adenine phosphoribosyltransferase deficiency. 2270 Aug 86

Gout is a recurrent inflammation of one or more joints that occurs because of disposal monosodium urate crystals in joints and other structures in soft tissues. Gout is a common metabolic disorder characterized by chronic hyperuricemia, serum urate levels > or = 360 mmol/1 (> 6.8 mg/ dl), which exceeds the physiological threshold of saturation. Well known complications of gout are tophi, deforming arthropathy, urolithiasis, chronic urate nephropathy, acute uric nephropathy (usually secondary due to chemotherapy), avascular necrosis of the femoral head. The risk of developing gout is directly linked to the development of hyperuricemia. Numerous evidence-based clinical and epidemiological study of urinary acid as an independent risk factor for developing hypertension, cardiovascular disease, chronic kidney disease, stroke and metabolic syndrome revalued the role of uric acid in human health and disease. In gout, as in other rheumatic disease, extraarticular manifestations are of utmost importance for morbidity and mortality.
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PMID:[Gout as a systemic disease: systemic manifestations and comorbidities of hyperuricaemia]. 2374 68

Adenine phosphoribosyltransferase (APRT) deficiency is a rare inherited metabolic disorder that leads to the formation and hyperexcretion of 2,8-dihydroxyadenine (DHA) into urine. The low solubility of DHA results in precipitation and formation of urinary crystals and kidney stones. The disease can be present as recurrent urolithiasis or nephropathy secondary to crystal precipitation into renal parenchyma (DHA nephropathy). The diagnostic tools available, including stone analysis, crystalluria, and APRT activity in red blood cells, make the diagnosis easy to confirm when APRT deficiency is suspected. However, the lack of recognition of this metabolic disorder frequently resulted in a delay in diagnosis and treatment with grave consequences. The early recognition and treatment of APRT deficiency are of crucial importance to prevent irreversible loss of renal function. This review summarizes the genetic and metabolic mechanisms underlying DHA stones formation and chronic kidney disease, along with the issues of diagnosis and management of APRT deficiency. Moreover, we report the mutations in the APRT gene responsible for APRT deficiency in 51 French patients (43 families) including 22 pediatric cases (18 families) among the 64 patients identified in the biochemistry laboratories of Necker Hospital, Paris (1978-2013).
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PMID:2,8-Dihydroxyadenine urolithiasis: a not so rare inborn error of purine metabolism. 2494 Jun 75

Urinary stone disease is a metabolic disorder tending to recur and having a growing proportion of younger patients. Current methods of surgical treatment do not guarantee the disease non-recurrence without effective subsequent metaphylaxis. At present, the principles of general and special (medical) metaphylaxis of urolithiasis have been developed and widely applied according to underlying metabolic disorders, the type of stone formation and risk factors for recurrence. Oversaturation of the urine with stone forming substances is a major factor in stone formation. Recommendations for using mineral water should not be given without a clear understanding of the expected effect of particular water. Its selection for treating urolithiasis depends on the chemical composition of the stones, underlying metabolic disorders, urine pH, the functional state of the gastrointestinal tract, concomitant diseases, etc.
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PMID:[The place of mineral water in the metaphylaxis of urolithiasis]. 2824 50

Primary hyperoxaluria type 1 is an autosomal recessive hereditary glyoxylate metabolism disorder characterized by excessive production of oxalate, caused by the deficiency of liver specific peroxisomal enzyme: alanineglyoxylate aminotransferase. For patients with end-stage renal disease, combined liver and kidney transplantation was needed. This report describes one patient, with a diagnosis of end-stage renal disease and primary hyperoxaluria 1 confirmed by PCR and direct sequencing with genomic DNA, received the simultaneous combined liver and kidney transplantation after seven months' waiting. However, there were several complications observed post surgery, such as protracted bleeding, common bile duct anastomotic stenosis, biliary calculi and recurrence of urolithiasis. All these were well solved by relevant department, and finally a satisfactory outcome was achieved. Multidisciplinary cooperation plays an important role on the PH1 patient management, especially when multiple complications are encountered.
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PMID:Multidisciplinary Cooperation in a Simultaneous Combined Liver and Kidney Transplantation Patient of Primary Hyperoxaluria 1. 2859 58

Phosphoribosylpyrophosphate synthetase (PRPPS) superactivity (OMIM 300661) is a rare inborn error of purine metabolism that is caused by gain-of-function mutations in the X-chromosomal gene PRPS1 (Xq22.3). Clinical characteristics include congenital hyperuricemia and hyperuricosuria, gouty arthritis, urolithiasis, developmental delay, hypotonia, recurrent infections, short stature, and hearing loss. Only eight families with PRPPS superactivity and PRPS1 gain-of-function mutations have been reported to date. We report on a 7-year-old boy with congenital hyperuricemia, urolithiasis, developmental delay, short stature, hypospadias, and facial dysmorphisms. His mother also suffered from hyperuricemia that was diagnosed at age 13 years. A novel PRPS1 missense mutation (c.573G>C, p.[Leu191Phe]) was detected in the proband and his mother. Enzyme activity analysis confirmed superactivity of PRPP synthetase. Analysis of the crystal structure of human PRPPS suggests that the Leu191Phe mutation affects the architecture of both allosteric sites, thereby preventing the allosteric inhibition of the enzyme. The family reported here broadens the clinical spectrum of PRPPS superactivity and indicates that this rare metabolic disorder might be associated with a recognizable facial gestalt.
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PMID:Novel PRPS1 gain-of-function mutation in a patient with congenital hyperuricemia and facial anomalies. 2874 44

Urolithiasis is one of the most actively progressing diseases, a metabolic disorder that is strongly associated with a combination of genetic, lifestyle, and environmental factors. The first part presents current views on the factors triggering the formation of stones and the theory of stone formation. More specifically, the article discusses factors that contribute to the activation and inhibition of nucleation and aggregation of stone-forming substances.
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PMID:[Methanaphylaxis of urolithiasis. Part 1. Factors for increasing incidence of urolithiasis. Current theories of renal stone formation]. 3076 8

Primary hyperoxaluria type 1 (PH1) is a rare metabolic disorder characterized by a defect in the liver-specific peroxisomal enzyme alanine-glyoxylate and serine-pyruvate aminotransferase (AGT). This disorder results in hyperoxaluria, recurrent urolithiasis, and nephrocalcinosis. Three forms of PH1 have been reported. Data on the infantile form of PH1 are currently limited in literature. Despite the fact that China is the most populated country in the world, only a few AGXT mutations have been reported in several Chinese PH1 patients. In the present study, we investigated a Chinese family in which two siblings are affected by the infantile form of PH1. Sanger sequencing was carried out on the proband, but the results were misleading. Two novel missense mutations (c.517T > C/p.Cys173Arg and c.667A > C/p.Ser223Arg) of the AGXT gene were successfully detected through whole-exome sequencing. These two mutations occurred in the highly conserved residues of the AGT. Four software programs predicted both mutations as the cause of the disease. A postmortem examination was performed and revealed the occurrence of global nephrocalcinosis on both kidneys. The crystals were collected and analyzed as calcium oxalate monohydrate. This study extends the knowledge on the clinical phenotype-genotype correlation of the AGXT mutation. That is, (i) two novel missense mutations were identified for the infantile form of PH1 and (ii) the same AGXT genotype caused the same infantile form of PH1 within the family.
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PMID:Two Novel AGXT Mutations Cause the Infantile Form of Primary Hyperoxaluria Type I in a Chinese Family: Research on Missed Mutation. 3078 79


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