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

Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is an X-linked defect of purine metabolism. Clinical manifestations are usually related to the degree of enzyme deficiency: complete HPRT deficiency (Lesch-Nyhan syndrome) presenting with severe neurologic or renal symptoms, or partial HPRT deficiency (Kelley-Seegmiller syndrome) manifesting as a gout-urolithiasis syndrome. A 3-generation kindred is described in which the recognition of partial HPRT deficiency in 2 adolescent male siblings presenting with uric acid lithiasis led to the diagnosis in 2 maternal uncles already in renal failure of unknown cause. This report highlights the importance of clinical awareness leading to early diagnosis, appropriate diagnostic methodology, and therapy of a treatable inherited disorder of purine metabolism for the prevention of renal failure.
 ...
PMID:Partial hypoxanthine-Guanine phosphoribosyltransferase deficiency as the unsuspected cause of renal disease spanning three generations: a cautionary tale. 1177 85

Adenine phosphoribosyltransferase (APRT) deficiency is an enzyme deficiency associated with purine metabolism, a hereditary disease that causes recurrent 2, 8-DHA stone formation due to a complete or partial APRT defect and slowly damages the renal function. Since APRT deficiency can be treated to prevent its progression to renal insufficiency, it is important to detect APRT gene mutations and make a definite diagnosis early. A 3.5-year-old girl presented with painful urination and dysuria, and was admitted to our hospital. The analysis of stones collected after spontaneous passage revealed 2, 8-dihydroxyadenine (DHA) urolithiasis. To make a definite diagnosis, we searched for the APRT gene mutations reported in Japanese. However, no APRT Q0 mutation was identified. Only a heterogeneous mutation, APRT J, was noted. Subsequently, we screened the gene mutation regions reported from Europe and the United States and identified a heterogeneous mutation at the start codon of APRT Q0 from methionine to valine. This is the first report of this mutation in Japan. She was diagnosed with APRT deficiency caused by a compound heterogeneous mutation : APRT Q0/(M1V) APRT J (M136T). We believe that the same gene mutation has been inherited among other Japanese. For the future genetic diagnosis of APRT deficiency, this is a valuable case.
 ...
PMID:[The first case of adenine phosphoribosyltransferase deficiency with APRT Q0 (M1V) mutation in Japan]. 2130 54

Urolithiasis in pediatric patients is relatively rare. Extracorporeal shock wave lithotripsy and endoscopic procedures play a major role in treating pediatric urolithiasis. A 3-year-old girl presented with macroscopic hematuria and right back pain and was diagnosed with a right renal stone (15 mm). Obstruction of ureteropelvic junction was suspected on computed tomography-urography and therefore the patient underwent percutaneous nephrolithotripsy (PNL). The operation was performed using a 12 Fr miniature nephroscope and Ho : YAG laser without any complications. This patient achieved a stone-free status. The stone analysis revealed a mixture of calcium oxalate and ammonium acid urate. PNL with a miniature nephroscope is safe and effective treatment for pediatric urolithiasis.
 ...
PMID:[A case of percutaneous nephrolithotripsy for pediatric renal stone]. 2141 39

Adenine phosphoribosyltransferase (APRT) deficiency is an enzyme deficiency associated with purine metabolism, a hereditary disease that causes recurrent 2, 8-DHA stone formation due to a complete or partial APRT defect and slowly damages the renal function. Since APRT deficiency can be treated to prevent its progression to renal insufficiency, it is important to detect APRT gene mutations and make a definite diagnosis early. A 3.5-year-old girl presented with painful urination and dysuria, and was admitted to our hospital. The analysis of stones collected after spontaneous passage revealed 2, 8-dihydroxyadenine (DHA) urolithiasis. To make a definite diagnosis, we searched for the APRT gene mutations reported in Japanese. However, no APRT Q0 mutation was identified. Only a heterogeneous mutation, APRT J, was noted. Subsequently, we screened the gene mutation regions reported from Europe and the United States and identified a heterogeneous mutation at the start codon of APRT Q0 from methionine to valine. This is the first report of this mutation in Japan. She was diagnosed with APRT deficiency caused by a compound heterogeneous mutation: APRT Q0/(M1V) APRT J (M136T). We believe that the same gene mutation has been inherited among other Japanese. For the future genetic diagnosis of APRT deficiency, this is a valuable case.
 ...
PMID:[The first case of adenine phosphoribosyltransferase deficiency with APRT*Q0 (M1I) mutation in Japan]. 2298 2

CASE DESCRIPTION A 3-year-old sexually intact male rabbit (Oryctolagus cuniculus) was evaluated because of a 1-day history of signs of anorexia and depression. CLINICAL FINDINGS Clinical examination revealed signs of depression, hunched posture, low skin elasticity (suggesting dehydration), slightly distended abdomen, and penile and preputial edema. The owner reported that the rabbit had been fed a routine diet, received water via a sipper bottle, and was allowed free movement around the home. It had been observed by the owner to bite and chew gypsum-based plaster from the walls of the home. Abdominal radiography and ultrasonography revealed radiopaque material in the urinary bladder, irregular thickening of the urinary bladder wall, and gaseous distention of the cecum. Urinalysis revealed mild hematuria and proteinuria. Results of the physical examination and other diagnostic tests were consistent with urolithiasis, cystitis, and gastrointestinal stasis. TREATMENT AND OUTCOME At clinical examination, numerous small uroliths originating from the urethral orifice were removed and submitted for composition analysis via infrared and Raman spectrometry and polarized microscopy. Laparotomy-assisted flushing of the urinary bladder and urethra was performed, and the rabbit recovered without complication. Results of composition analysis indicated the uroliths were composed of calcium sulfate dihydrate. CLINICAL RELEVANCE This is the first report of calcium sulfate urolithiasis in a rabbit, which was attributed to dehydration (possibly due to inadequate water provision) and excessive dietary intake of sulfur in the form of gypsum-based plaster. Rabbits should be prevented from consuming plaster and other potential extradietary sources of sulfur and provided an appropriate water supply.
 ...
PMID:Calcium sulfate dihydrate urolithiasis in a pet rabbit. 2820 16

Feline lower urinary tract diseases are known to be life threatening conditions in cats, especially when they occur as obstructive diseases in males. Early diagnosis and treatment is necessary, otherwise it may lead to death. A 3-year-old male Persian cat was referred to the clinic with a history of anuria, lethargy, loss of appetite and exploratory cystotomy 6 months ago due to urethral obstruction following urolithiasis. Urinary bladder was enlarged and painful on palpation and urine accumulation was observed in ultrasonography. Biochemical and hematological analyses revealed hypocalcemia, hyperphosphatemia and hyperkalemia and increase in blood urea nitrogen, creatinine, white blood cell (WBC), red blood cell (RBC) and hematocrit. Urine analysis showed a turbid appearance, protein 1+, blood 3+, pH reduction, increased WBCs and RBCs and presence of bacteria, calcium oxalate crystals and epithelial cells. Urine culture reveled Staphylococcus saprophyticus. Postoperatively, microscopic examinations of the urinary bladder biopsy showed pathological lesions of bacterial cystitis. Based on these findings, bacterial cystitis and urethral obstruction due to post-operative urinary tract infections were diagnosed. For treatment, electrolyte imbalances were corrected firstly, cystotomy was performed and a catheter was conducted into the urethra; then, urethra was flushed and obstruction was resolved. Ampicillin was effective in reducing the bacterial count in urine. Despite the fact that cystotomy is a common procedure in veterinary medicine, clinicians should be aware of its complications such as post-operative urinary tract infections.
 ...
PMID:Obstructive bacterial cystitis following cystotomy in a Persian cat. 3006 10