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本文报道1例婴儿遗传性黄嘌呤尿并发肾结石误诊为Ⅰ型(远端)肾小管性酸中毒(RTA),并有高钙尿、钙盐结石及体重不增。病例 7个月、科威特女婴。因尿结石、高氯性代谢性酸中毒、呕吐、体重不增、并有一次尿路感染而来求诊。在生后3.5～4个月时,首次发现尿布上有几小块棕黄色结石,并因生后不久呕吐而住院。显微镜下见血尿和无定形的磷酸盐结晶。尿培养示大肠杆菌感染,用复方新诺明治疗,住院第3日排出3小
This paper reports a case of infantile hereditary xanthine urine associated with kidney stones misdiagnosed as type Ⅰ (distal) renal tubular acidosis (RTA), and hypercalciuria, calcium stones and weight gain did not increase. Case 7 months, Kuwaiti baby girl. Due to urinary stones, high chloride metabolic acidosis, vomiting, weight loss, and urinary tract infection once came to seek treatment. 3.5 to 4 months after birth, for the first time found on the diapers have a few small pieces of brown stone, and vomiting after hospitalization. Hematuria and amorphous phosphate crystals were seen under the microscope. Urine culture showed E. coli infection with cotrimoxazole treatment, discharged on the 3rd day of hospitalization 3 hours