Meliţ Lorena Elena, Mărginean Cristina Oana, Mărginean Cristian Dan, Mărginean Maria Oana, Aldea Cornel
Department of Pediatrics I, University of Medicine, Pharmacy, Sciences and Technology Târgu Mureş.
University of Medicine, Pharmacy, Sciences and Technology Târgu Mureş, România.
Medicine (Baltimore). 2019 Nov;98(44):e17707. doi: 10.1097/MD.0000000000017707.
Autosomal recessive polycystic kidney disease (ARPKD) is a severe rare genetic condition, with high mortality rates and autosomal recessive pattern of transmission similar to most early onset cystic kidney diseases. The mortality rates can reach up to 30% during the neonatal period.
We report a case of a 27-day-old male neonate admitted in our clinic for fever, foul-smelling urine, and diarrhea. A previous abdominal ultrasound at the age of 2 weeks revealed enlarged, hyperechoic kidneys, no abnormalities of the urinary exam. Clinical examination revealed poor general status, ill-looking face, diminished cutaneous turgor, distended abdomen, and palpable kidneys. Laboratory tests pointed out leukopenia, anemia, border-line platelet count, elevated inflammatory biomarker level, hyponatremia, hypoalbuminemia, proteinuria, leukocyturia, and hematuria. Both urine and blood cultures were positive for E. coli.
Abdominal ultrasound revealed bilateral nephromegaly, diminished parenchymatous index, with the absence of differentiation between the cortex and medulla. Abdominal MRI described bilateral nephromegaly, the hypertrophy comprising especially the structures of Malpighi pyramids, with multiple cystic lesions disseminated within both kidneys, projected also in Malpighi pyramids, their diameters ranging between 2 and 7 mm. Thus, our final diagnoses were polycystic kidney disease and sepsis due to urinary tract infection with E. coli.
After treating the infection, the patient was referred to a more experienced center for appropriate management of polycystic kidney disease.
The progress of the patient until the age of 1 year and 2 months has been remarkably favorable, presenting first-degree chronic kidney disease, with normal blood parameters and controlled blood pressure values, no other episodes of urinary infection, and without supplementary pathological changes in ultrasound.
Despite the poor prognosis of PKD reported in the literature, our case had an outstandingly favorable evolution during the first 2 years of life most-likely due to the early diagnosis and treatment, but also proper monitoring.
常染色体隐性多囊肾病（ARPKD）是一种严重的罕见遗传病，死亡率高，遗传方式为常染色体隐性，与大多数早发性多囊肾病相似。新生儿期死亡率可达30%。
我们报告一例27日龄男婴，因发热、尿液有异味及腹泻入住我院。2周龄时的腹部超声检查显示肾脏增大、回声增强，尿液检查无异常。临床检查发现患儿一般状况差，面容憔悴，皮肤弹性降低，腹部膨隆，可触及肾脏。实验室检查显示白细胞减少、贫血、血小板计数临界值、炎症生物标志物水平升高、低钠血症、低白蛋白血症、蛋白尿、白细胞尿和血尿。尿液和血液培养均显示大肠杆菌阳性。
腹部超声显示双侧肾肿大，实质指数降低，皮质和髓质无分化。腹部磁共振成像显示双侧肾肿大，肥大主要累及马尔皮基锥体结构，双肾内有多个囊性病变，也见于马尔皮基锥体，直径在2至7毫米之间。因此，我们的最终诊断是多囊肾病和因大肠杆菌引起的尿路感染导致的败血症。
感染得到治疗后，患者被转诊至更有经验的中心，以对多囊肾病进行适当管理。
患者至1岁2个月时病情进展非常顺利，患有一期慢性肾病，血液参数正常，血压值得到控制，无其他尿路感染发作，超声检查无其他病理变化。
尽管文献报道多囊肾病预后不佳，但我们的病例在生命的头两年病情发展非常良好，这很可能是由于早期诊断和治疗以及适当的监测。
