CAJ | 학술논문

目的报道两例.肾单位肾痨-髓质囊肿病(NPH-MCKD)的临床病理特点.方法分析本院诊断的两例NPH-MCKD的临床资料及肾活检组织的病理改变,并结合文献复习,探讨NPH-MCKD的临床病理特点及其诊断方法.结果两例均为青年患者,首发症状为烦渴、多尿,低相对密度尿,轻度蛋白尿,尿沉渣无明显异常,肾小管浓缩功能及酸化功能下降.2例均有轻度肾功能不全,无肾脏病家族史,无肾外损害表现.B超可见肾实质回声增强,皮髓质分界结构不清;其中1例CT可见双肾的多发小囊肿,主要分布于皮髓质交界处.肾活检病理检查:2例均以弥漫性肾小管间质损伤为特点,表现为肾小管基底膜破坏、肾小管萎缩及囊性扩张、肾间质纤维化的三联征;可见部分肾小球硬化.皮髓质交界处.肾小管扩张形成多发囊肿是NPH-MCKD的特征性病理改变.结论以肾小管功能受损为突出表现的青少年患者要高度怀疑NPH-MCKD.B超或CT检查可提供重要线索.肾活检病理检查见到皮髓质交界处多发性小囊肿形成可确诊本病.
목적 보도량례.신단위신로-수질낭종병(NPH-MCKD)적림상병리특점.방법 분석본원진단적량례NPH-MCKD적림상자료급신활검조직적병리개변,병결합문헌복습,탐토NPH-MCKD적림상병리특점급기진단방법.결과 량례균위청년환자,수발증상위번갈、다뇨,저상대밀도뇨,경도단백뇨,뇨침사무명현이상,신소관농축공능급산화공능하강.2례균유경도신공능불전,무신장병가족사,무신외손해표현.B초가견신실질회성증강,피수질분계결구불청;기중1례CT가견쌍신적다발소낭종,주요분포우피수질교계처.신활검병리검사:2례균이미만성신소관간질손상위특점,표현위신소관기저막파배、신소관위축급낭성확장、신간질섬유화적삼련정;가견부분신소구경화.피수질교계처.신소관확장형성다발낭종시NPH-MCKD적특정성병리개변.결론 이신소관공능수손위돌출표현적청소년환자요고도부의NPH-MCKD.B초혹CT검사가제공중요선색.신활검병리검사견도피수질교계처다발성소낭종형성가학진본병.
Objective To report the clinicopathological features of 2 cases of nephronophthisis-medullary cystic kidney disease (NPH-MCKD). Methods The clinical data and pathological changes of renal biopsy in two patients of NPH-MCKD from our hospital were analyzed, and associated literatures were reviewed simultanously. The clinicopathological featuresand diagnosis of NPH-MCKD were discussed. Results Two adolescent patients were admitted to our hospital for indolent renal insufficiency, polyuria accompanied by polydipsia as first signs.Urine analysis showed low specific density urine, mild proteinuria, and few formed elements in urinary sediments. The ability of urine concentration and acidification was decreased. Familial history of renal disease and extra-renal lesions were not found. Renal ultrasound presented an increased echogenicity with diminished cortico-meduUary differentiation, and multiple small cysts in renal corticomedullary border were identified in one case by computed tomography. Pathological examination of renal biopsy revealed diffuse tubular interstitial lesion which was characterized by the triad of tubular basement disintegration, tubular atrophy with cyst development, and interstitial fibrosis. Some of glomerular sclerosis occurred. Cyst development at the corticomedullary border of the kidneys was the specific feature of NPH-MCKD. Conclusions Young patients with impaired tubular function should be suspected of NPH-MCKD. Renal ultrasound or computed tomography can provide an important clue. Multiple renal cysts at the corticomedullary border identified by renal biopsy can be a diagnostic indication for NPH-MCKD.