Congenital Anomalies of the Kidneys in Family Members

Abstract

Our cases were unrelated parents with three children, including two affected by kidney anomalies (a 10-year old girl and a 6-year old boy) and an older son who was healthy. After obtaining the history of the proband and family, and getting permission, we took clinical responsibility for the entire family. The 45-year old father had a bifid renal pelvis. The mother was healthy and had not been exposed to known mutagenic or teratogenic agents during her pregnancies. She did not recall bleeding or serious disease. The 10-year-old girl was admitted to the Social Security Hospital with the complaint of frequent abdominal pain and chronic urinary tract infection. An intravenous pyeleography (IVP) showed a right pelvic renal ectopia (Figure 1). The patient had a history of congenital hip dislocation, which was treated when she was 3-months old. The 6-year-old brother had right undescended testes. In addition, we observed partial syndactyly between phalanges 2 and 3. IVP revealed that he had a left crossed renal ectopia with fusion (Figure 2). In a chromosome analysis by Tripsin Giemsa G-banding, no structural or numerical anomalies were found in any family members, suggesting that the renal anomalies in this family were not chromosome based. We believe this indicates the presence of a familial tendency rather than a sporadic urinary system disorder.Renal ectopia is considered an anomaly of ascent whereas crossed renal ectopia with fusion has been classified as an anomaly of form and fusion.3 Fifty percent of ectopies are pelvic. 3,4,5 Malformations associated with the pelvic kidneys include genital anomalies, which vary from 15% to 45% in incidence, depending on how carefully the patient is evaluated. Other anomalies associated with the pelvic kidney are skeletal anomalies, which can be expected in more than 50% of patients. 3,5

Urethral doubling in children and adolescents

“…Удвоение мочеиспускательного канала -редкая врождённая аномалия развития нижних мочевых путей. В мировой литературе описано немногим более 200 случаев разнообразных форм данного порока, что, вероятно, отражает различные варианты эмбриологических дефектов [1,2,3]. Несмотря на множество существующих теорий возникновения данной аномалии, единой трактовки её развития не существует.…”