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)

Costello syndrome is characterized by postnatal growth deficiency, mental retardation, curly hair, coarse characteristic face, and loose skin of hands and feet. Patients with this syndrome have a high incidence of cardiac involvement, including arrhythmia, atrial septal defect, and hypertrophic cardiomyopathy. We report a 16-year-old adolescent female with Costello syndrome who presents with hypercalciuria and urolithiasis.
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PMID:Hypercalciuria and urolithiasis in a case of Costello syndrome. 1010 Feb 91

Hypoxanthine-guanine phosphoribosyl transferase (HPRT) deficiency is an X-linked defect of purine metabolism. Clinical manifestations are usually related to the degree of enzyme deficiency; complete HPRT deficiency (Lesh-Nyhan Syndrome) presenting with severe neurological or renal symptoms, or partial HPRT deficiency (Kelley-Seegmiller syndrome) manifesting as a gout-urolithiasis syndrome. We report a case of partial HPRT deficiency presenting as chronic tophaceous gout, mental retardation, nephrolithiasis and family history suggestive of X-linked inheritance, for its rarity.
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PMID:Partial HPRT deficiency (Kelley-Seegmiller syndrome). 1664 40

Use of diagnostic imaging studies for evaluation of pregnant patients with medical conditions not related to pregnancy poses a persistent and recurring dilemma. Although a theoretical risk of carcinogenesis exists, there are no known risks for development of congenital malformations or mental retardation in a fetus exposed to ionizing radiation at the levels typically used for diagnostic imaging. An understanding of the effects of ionizing radiation on the fetus at different gestational stages and the estimated exposure dose received by the fetus from various imaging modalities facilitates appropriate choices for diagnostic imaging of pregnant patients with nonobstetric conditions. Other aspects of imaging besides radiation (ie, contrast agents) also carry potential for fetal injury and must be taken into consideration. Imaging algorithms based on a review of the current literature have been developed for specific nonobstetric conditions: pulmonary embolism, acute appendicitis, urolithiasis, biliary disease, and trauma. Imaging modalities that do not use ionizing radiation (ie, ultrasonography and magnetic resonance imaging) are preferred for pregnant patients. If ionizing radiation is used, one must adhere to the principle of using a dose that is as low as reasonably achievable after a discussion of risks versus benefits with the patient.
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PMID:Imaging the pregnant patient for nonobstetric conditions: algorithms and radiation dose considerations. 1802 13

Cystinuria is an inherited renal and intestinal disease characterized by defective amino acids reabsorption and cystine urolithiasis. It is unusually associated with neurologic symptoms. Mutations in two genes, SLC3A1 and SLC7A9, have been identified in cystinuric patients. This report presents a 13-yr-old boy with cystinuria who manifested difficulty in walking, ataxia, and mental retardation. Somatosensory evoked potential of posterior tibial nerve stimulation showed the central conduction dysfunction through the posterior column of spinal cord. He was diagnosed non-type I cystinuria by urinary amino acid analysis and oral cystine loading test. We screened him and his family for gene mutation by direct sequencing of SLC3A1 and SLC7A9 genes. In this patient, we identified new missence mutation G173R in SLC7A9 gene.
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PMID:Non-type I cystinuria associated with mental retardation and ataxia in a Korean boy with a new missence mutation(G173R) in the SLC7A9 gene. 2005 67