Клинички, генетски и прогностички аспекти на рано дијагностицираните конгенитални аномалии на бубрезите и уринарниот тракт

Abstract

Congenital anomalies of the kidney and urinary tract- CAKUT are common childhood pathology accounting for 20 to 30% of all congenital anomalies detected in the prenatal period. CAKUT significance implies to the risk they represent to kidney function deterioration and end stage renal disease development. Currently, the number of research papers about the various types of malformations, as well as genetic and prognostic factors influencing the early detection of such anomalies is fewer than needed, nor are there enough papers devoted to comparing the parameters of clinical characteristics, as well as outcome of patients in which the anomalies were detected at an early age, in comparison with patients with late CAKUT diagnosis. The aim of this paper is to analyze the demographic characteristics (including age, sex, ethnic background and familial predisposition), the presence of extrarenal manifestations, the type and severity of CAKUT, the outcome in both categories, with either a late or early diagnosis of CAKUT. The paper was designed as a retrospective prospective study based on over 399 examined patients, half of which are with a late, and half with an early diagnosis. The diagnosis was established at the University Children`s hospital in Skopje. In 94% of patients with an early diagnosis, assumptions about the presence of CAKUT were made during the prenatal period, which were later confirmed during the first month post birth. The gender distribution of examined patients is unequal, as 61.65 % of male patients diagnosed with CAKUT fall within the category of patients with a prenatal diagnosis and in fact make up the majority of it (59,76%). Familial predisposition to CAKUT has been detected in 23.06% of patients, and it’s presence is twice as common in patients with a late diagnosis. Ninety-seven patients had a case of complex CAKUT, with a similar number of patients in both groups. The most common primary renal phenotype detected during our examination was hydronephrosis, being more dominant in the group with a prenatal diagnosis, being commonly resolved during the examination process in 60% of patients diagnosed with mild, isolated hydronephrosis. In the postnatal category, the most common diagnosis of vesicourethral reflux was present in 76 patients, or rather, 71,69%. Urinary infections are considerably more common in patients which fall into the late-term diagnosis category, detected within 76 patients (71,69%). These infections have been detected more often amongst female patients, which is most likely due to complex phenotype present within said patients, as well as the fact that patients in the group with an early diagnosis are commonly treated with antibiotic prophylaxis. Surgical treatment was unavoidable among 16,29% of patients, whereas chronic kidney diseases were detected in only 6% of the examined cases. This paper’s purpose was to aid in the understanding and comprehension of the characteristics of both early and late term detection of CAKUT, and to provide help with early, optimised treatment, in hopes of hampering the progress towards terminal kidney illness.