Research progress on renal calculus associate with inborn error of metabolism / 浙江大学学报·医学版

Renal calculus is a common disease with complex etiology and high recurrence rate. Recent studies have revealed that gene mutations may lead to metabolic defects which are associated with the formation of renal calculus, and single gene mutation is involved in relative high proportion of renal calculus. Gene mutations cause changes in enzyme function, metabolic pathway, ion transport, and receptor sensitivity, causing defects in oxalic acid metabolism, cystine metabolism, calcium ion metabolism, or purine metabolism, which may lead to the formation of renal calculus. The hereditary conditions associated with renal calculus include primary hyperoxaluria, cystinuria, Dent disease, familial hypomagnesemia with hypercalciuria and nephrocalcinosis, Bartter syndrome, primary distal renal tubular acidosis, infant hypercalcemia, hereditary hypophosphatemic rickets with hypercalciuria, adenine phosphoribosyltransferase deficiency, hypoxanthine-guanine phosphoribosyltransferase deficiency, and hereditary xanthinuria. This article reviews the research progress on renal calculus associated with inborn error of metabolism, to provide reference for early screening, diagnosis, treatment, prevention and recurrence of renal calculus.

A case of Turner syndrome with horseshoe kidney and right side duplication kidney with UPJO and double kidney cyst / 中华泌尿外科杂志

This paper reports a rare clinical case of 46 X, i(X)(q10)TS in a female patient with horseshoe kidney and right duplication kidney with renal pelvic and ureteral junction stenosis and double kidney cysts, secondary to right renal calculi and hydronephrosis. After open surgical treatment, the curative effect was definite, which effectively relieved the stenosis at the junction of the renal pelvis and ureter and relieved the clinical symptoms of the patient. The patient was followed up for 3 months and recovered well. When TS is combined with horseshoe kidney with UPJO, open pyeloplasty with partial isthmus and renal fixation are still classic surgical procedures.

The clinical value of CT attenuation values diagnosis of hydronephrosis with infection / 中华泌尿外科杂志

Objective To investigate the diagnostic and clinical significance of computerized tomography (CT) attenuation values (hounsfield unit,HU) in hydronephrosis with infection.Methods One hundred and eighty-five cases of upper urinary tract calculi with hydronephrosis from June 2014 to June 2016 were retrospectively analyzed.There were 82 males and 103 females with a mean age of (52.3 ± 13.1)years old,ranging 18-80 years old.58 cases suffered hydronephrosis without infection,55 cases suffered acute pyelonephritis and 72 cases suffered pyonephrosis.The CT attenuation values of the renal pelvis urine in three groups were measured.Results The CT attenuation value of hydronephrosis without infection group was (5.61 ± 3.67) HU,95 ％ CI(4.64-6.57) H U.In acute pyelonephritis group,CT attenuation value was (8.35 ± 5.63) HU,95％ CI(6.83-9.87) HU.In pyonephrosis group,the CT attenuation value was (13.92 ± 6.21) HU,95％ CI (12.46-5.38) HU.The CT attenuation value of pyelonephritis compared with that of hydronephrosis without infection was significant different.(P ＜ 0.01).The CT attenuation value of the patients with pyonephrosis was significantly higher than that of patients without infection and with pyelonephritis (P ＜ 0.01).Conclusions The CT attenuation value of renal pelvis urine can predict intrarenal infection.Furthermore,The measurement of CT attenuation value has some clinical significance in preoperative evaluation of hydronephrosis with infection.