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Query: UMLS:C0451641 (urolithiasis)
 3,973 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Jack, aged 66 years, presented to his general practitioner with a foreign body sensation in his throat and altered voice, which developed over 30 minutes. He was otherwise well, having no other new symptoms or recent alterations to medication. He had not eaten anything unusual. He had hypertension, type 2 diabetes, stable ischaemic heart disease, urolithiasis and benign prostatic hypertrophy. His regular medication was metformin, rosuvastatin, carvedilol, candesartan (last 5 years) and saxagliptin (last 6 months). He had no allergies but was intolerant of ramipril due to cough. There was no family history of note. On examination he had no itch or rash, or swelling of the tongue, lips, cheek or neck. However, there was oedema of the soft palate and uvula. He was maintaining his airway, saturating at 98%, and his chest was clear. He was afebrile and systemically well.
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PMID:Lump in the throat - a case study. 2432 87

Primary hyperoxaluria type 1 is a rare autosomal-recessive disease caused by the deficient activity of the liver specific enzyme alanine-glyoxylate aminotransferase. Increased endogenous oxalate production induces severe hyperoxaluria, recurrent urolithiasis, progressive nephrocalcinosis and renal failure. Here we report a 6 month old boy who presented with vomiting and decreased urine volume. He was diagnosed with chronic kidney failure at 4 months of age and peritoneal dialysis was introduced at a local hospital. His parents were third degree cousins and family history revealed 2 maternal cousins who developed end stage renal disease during childhood. When he was admitted to our hospital, laboratory studies were consistent with end stage renal disease, ultrasound showed bilateral massive nephrocalcinosis. As clinical presentation was suggestive for primary hyperoxaluria type 1, plasma oxalate was determined and found extremely elevated. Genetic testing proved diagnosis by showing a disease causing homozygous mutation (AGXT-gene: c.971_972delT). The patient was put on pyridoxine treatment and aggressive dialysis programme. In conclusion; progressive renal failure in infancy with massive nephrocalcinosis, especially if accompanied by consanguinity and family history, should always raise the suspicion of PH type 1. Increased awareness of the disease would help physicians in both treating the patients and guiding the families who have diseased children and plan to have further pregnancies.
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PMID:Primary Hyperoxaluria Type 1: A Cause for Infantile Renal Failure and Massive Nephrocalcinosis. 2609 Sep 95

A 24-year-old male visited our hospital because of pain in both flanks. His biochemistry profile showed an elevated serum creatinine level and low serum uric acid level. History taking revealed that he had undertaken exercise prior to the acute kidney injury (AKI) event, and he stated that family members had a history of urolithiasis. His renal profile improved after hydration and supportive care during hospitalization. Although the patient was subsequently admitted again due to AKI, his status recovered with similar treatment. Since the diagnosis of the patient was familial renal hypouricemia with exercise-induced AKI, we performed genotyping of SLC22A12, which encodes human urate transporter 1. The diagnosis was confirmed by the detection of a homozygous mutation of W258X. We herein, report a case of familial renal hypouricemia confirmed by genotyping of SLC22A12, and review the relevant literature.
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PMID:A Case Report of Familial Renal Hypouricemia Confirmed by Genotyping of SLC22A12, and a Literature Review. 2684 4

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 a rare complication after kidney transplant. Over the years, treatment of kidney stones has evolved radically, but a standard approach for transplanted kidneys has not yet been defined. Here, we present a 69-year-old male patient who received successful treatment of nephrolithiasis of the transplanted kidney. The patient, who had received a kidney from a deceased donor, was admitted to our department following a posttransplant Doppler ultrasonography showing severe hydronephrosis of the transplanted kidney associated with acute renal function decay. Computed tomography scan confirmed the hydronephrosis of the transplanted kidney, showing a large, impacted, ureteropelvic 3-cm-diameter stone and other concretions around the ureteral stent. The patient was then treated with retrograde intrarenal surgery during an open ureterotomy. His postoperative course was uneventful, and he showed good functional reprise and a rapid decrease of serum creatinine levels. Intraoperative retrograde intrarenal surgery could be a valid option for treatment of kidney stones of the transplanted kidney during open surgery of the ureter or during ureterovesical anastomosis.
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PMID:Retrograde Intrarenal Surgery Through an Incision of the Ureter as a Good Treatment Option for Large Ureteropelvic Impacted Stones in Transplanted Kidneys. 3025 42

The field of urolithiasis has undergone many rapid changes in the last 3 decades. In this article, three eminent experts in various fields of urolithiasis research describe their respective visions for the future in stone research, stone treatment and surgical training. Many stone researchers have seen and regretted that there has not been a real breakthrough for decades now. Exceptions are the application of citrate prophylaxis and the abandonment of calcium-avoiding diet in stone formers. Certain areas of stone research have been exhausted and the body of literature available should suffice as background knowledge in those. Yet, to find meaningful mechanisms of clinically applicable stone prevention, the limited funds which are currently available should be used to research priority areas, of which crystal-cell interaction is envisioned by one of the present authors as being a crucial direction in future stone research. In the opinion of the second author, surgical stone treatment is very much technology-driven. This applies to the evolution of existing technologies and instruments. In addition, robotics, IT and communication software, and artificial intelligence are promising and are steadily making a meaningful impact in medicine in general, and endourology in particular. Finally, the third author believes that despite the exciting advances in technology, the role of the surgeon can never be replaced. The idea of a fully automated, artificially thinking and robotically performing system treating patients medically and surgically will not appeal to urologists or patients but may at least be a partial reality. His vision therefore is that surgical training will have to take on a new dimension, away from the patient and towards virtual reality, until the skill set is acceptably developed.
Urolithiasis 2019 Oct
PMID:Vision for the future on urolithiasis: research, management, education and training-some personal views. 3037 70


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