Case report unilateral renal agenesis in two siblings. The incidence of unilateral renal agenesis is approximately 1 in 2000. This condition includes bilateral renal agenesis bra or unilateral renal agenesis ura. Unilateral renal agenesis associated with urinary outflow. Developmental renal defects include 1 bilateral unilateral renal agenesis, 2 renal hypodysplasia characterized by a reduction in the number of nephrons leading to a small overall kidney size and frequent dysplasia with or without cysts, and 3 multicystic dysplastic kidney mcdk. Genital anomalies occur in 3760% of females and 12% of males with congenital unilateral renal agenesis. Fetal ultrasound is the traditional means of evaluating this condition and the sonographic diagnosis is based on failure to visualize the fetal kidneys, absence of the bladder and the. Our program has been tracking renal agenesis hypoplasia among live births in select counties since. In addition occasionally kidneys may be in the wrong place ectopic kidney. When identified, a detailed anatomical ultrasound and a specialized ultrasound focusing on the fetal heart echocardiogram should be performed to evaluate for coexisting anomalies. Renal agenesis hypoplasia minnesota department of health. Congenital renal agenesis is defined as the complete absence of renal tissue at birth.
Bilateral renal agenesis bra is the absence of both. The inbred rat strain aci is a known animal model for studying ura. Congenital absence of one unilateral renal agenesis ura or both bilateral renal agenesis bra renal parenchymal tissue at birth lack of amniotic fluid oligohydramnios with bra, causing complications such as impaired fetal lung development, thoracic compression, limb. A case report and recommendations for preadolescent screening. Early kidney damage in patients born with unilateral renal. Vesicoureteral reflux is the most common finding 24% of patients. If your child has unilateral renal agenesis, his or her doctors will perform a thorough examination to identify any other birth defects which may be present. In this condition, there is absence of both kidneys. Unilateral branchial sinus with unilateral renal agenesis. Unilateral renal agenesis, or solitary kidney, is a common disease 1720 births with a predominance of male patients. Unilateral renal agenesis ura is defined as the onesided congenital absence of renal tissue resulting from failure of embryonic kidney formation 1, 2. Unilateral agenesis is defined as the complete absence of development of one kidney and ureter. Unilateral renal agenesis ura is the complete absence of the kidney on one side, with compensatory hypertrophy overgrowth on the contralateral opposite side. Unilateral renal agenesis ura is defined as the onesided.
Our patient had history of a branchial sinus and studies consistent with unilateral renal agenesis but asymptomatic for renal disease however the patient did not present with any otological abnormalities or any hearing complaints except from the family history of. Blood pressure, renal function, and proteinuria in children with unilateral renal agenesis. About one in every 300 children is born with a single kidney unilateral renal agenesis. Unilateral renal agenesis associated with urinary outflow tract obstruction in a diabetic pregnancy s pati, k pandit, s mukherjee abstract we report a case of diabetic pregnancy where the foetus had enlarged cystic left kidney with agenesis of right kidney. Full text full text is available as a scanned copy of the original print version. Some cases of bilateral renal agenesis are detected through prenatal ultrasound while other cases are not evident until birth. Congenital solitary functioning kidney csfk is among the congenital anomalies of the kidney and. The urinary bladder was dilated and urethra revealed posterior urethral valve an. When renal agenesis is bilateral, it is not compatible with life. The primary outcome of this study was adverse maternal outcomes including 1 preterm delivery, 2 need for cesarean section, 3 maternal hospital stay longer than 3 days, and 4 a preeclampsiaeclampsia diagnosis. Unilateral renal agenesis and the congenital solitary. We do not consider in detail other anomalies resulting in sfk, such as unilateral multicystic dysplastic kidney mcdk and fused renal tracts 1, 2. Data of patients with unilateral renal agenesis and development of kidney damage.
Unilateral renal agenesis may be associated with other anomalies of the urinary tract, intestinal tract, or heart, and may be an element of many syndromes. Babies with unilateral renal agenesis may have other associated birth defects most commonly, involving the urinary system or genitals. Get a printable copy pdf file of the complete article 680k, or click on a page image below to browse page by page. Long terminal repeat insertion in kit causes unilateral. Renal agenesis ra is a form of renal tract malformation characterized by the complete absence of development of one or both kidneys unilateral ra or bilateral ra respectively. Renal agenesis genetic and rare diseases information.
Hillman nephrourology unit, ucl institute of child health, and centre for nephrology, royal free and university college medical school, london, uk. Unilateral renal agenesis ura diagnosis and complications. Renal agenesis is a condition in which a newborn is missing one or both kidneys. Unilateral renal agenesis and uterine anomalies scielo portugal. Seminal vesicle cyst with ipsilateral renal agenesis. Association of unilateral renal agenesis and genital anomalies. Unilateral renal agenesis ura is associated with other congenital anomalies of the kidney and urinary tract cakut. During renal sonographic mass screening among 280,000 children in a 2. Pdf background unilateral renal agenesis ura is associated with other congenital anomalies of the kidney and urinary tract cakut and extrarenal.
Found in roughly one in 1,000 live births higher in twins, this condition is not fatal and often causes no additional symptoms. Renal agenesis is the unilateral or bilateral absence of any trace of kidney tissue figure 11a. When unilateral renal agenesis is combined with a blind hemivagina and uterus didelphys, then the condition is known as herlynwernerwunderlich syndrome. Prognosis of patients with unilateral renal agenesis. Unilateral renal agenesis and the congenital solitary functioning kidney. Request pdf renal dysplasia with unilateral renal agenesis in a dog this report describes a renal dysplastic lesion associated with renal agenesis in a 3yearold dog with chronic renal failure. The diagnosis is often made at the time of the 1823 week antenatal ultrasound scan, done to examine the fetal growth. It is more common in males, and the left kidney is more frequently absent. Human unilateral renal agenesis ura is a urinary malformation characterized by congenital absence of one kidney. Renal agenesis renal agenesis is a congenital pathological condition of the kidneys in which the affected baby has either one or both kidneys missing at the time of birth. Unilateral renal agenesis is a frequent renal malformation with incidence of 1. Cysts of the seminal vesicles associated with upper urinary tract malformations are uncommon with fewer than 100 cases reported in the literature. Usually there is no family history of renal agenesis, but in 2036% of cases, there is a genetic cause.
Renal outcome of children with unilateral renal agenesis. A total of 200 women with unilateral renal agenesis were matched with 800 women with 2 kidneys. The condition is usually silent and is usually detected on fetal ultrasound scan by the presence of empty renal. Unilateral renal agenesis occurs in 1 of 2000 live births. Unilateral renal agenesis means that a baby develops only one kidney. When a baby has just one kidney, the organ grows larger to compensate and perform the functions of both.
Currently, there are no specific methods or guidelines to prevent bilateral renal agenesis, since it is a genetic condition. Unilateral renal agenesis is more common, occurring in one out of every 7501,000 births. It has also been associated with mutations in the genes ret or upk3a. Renal agenesis is a medical condition in which one unilateral or both bilateral fetal kidneys fail to develop unilateral and bilateral renal agenesis in humans, mice and zebra fish has been linked to mutations in the gene greb1l. Unilateral renal agenesis ura is the absence of one kidney. Unilateral renal agenesis is a congenital disease characterized by the lack of development of a kidney. In this condition there is absence of a solitary kidney.
Renal agenesis or severe renal hypoplasia with oligohydramnios or anhydramnios is associated with a poor prognosis, with death occurring from pulmonary hypoplasia in the majority of cases. Impact of maternal unilateral renal agenesis on pregnancy. False diagnosis of renal agenesis on fetal mri sgro. Treatment and management of bilateral renal agenesis is ineffective. Renal dysplasia with unilateral renal agenesis in a dog. Congenital anomalies of the kidney and urinary tract cakut include a spectrum of malformations that could be detected by antenatal ultrasound us screening in around 1. For reasons which are not clear at this time the process may go wrong and either one or both kidneys may fail to develop. A 12yearold female with a prenatal diagnosis of left. The reports in the literature of cases of unilateral renal agenesis. Unilateral renal agenesis and the congenital solitary functioning. Read more about symptoms, diagnosis, treatment, complications, causes and prognosis. It is either inherited or results from spontaneous gene mutations, sometimes occurring as part of a syndrome. In 15% of cases, one of the parents has unilateral renal agenesis and in these families the risk of recurrence is increased. Unilateral renal agenesis can be accompanied by other cakut 32% and no renal anomalies.