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• W2059656468 abstract "Urology| May 01 2002 Inheritance of Multicystic Dysplastic Kidney: Is Family Screening Necessary? AAP Grand Rounds (2002) 7 (5): 55. https://doi.org/10.1542/gr.7-5-55 Views Icon Views Article contents Figures & tables Video Audio Supplementary Data Peer Review Share Icon Share Twitter LinkedIn Tools Icon Tools Get Permissions Cite Icon Cite Search Site Citation Inheritance of Multicystic Dysplastic Kidney: Is Family Screening Necessary?. AAP Grand Rounds May 2002; 7 (5): 55. https://doi.org/10.1542/gr.7-5-55 Download citation file: Ris (Zotero) Reference Manager EasyBib Bookends Mendeley Papers EndNote RefWorks BibTex toolbar search toolbar search search input Search input auto suggest filter your search All PublicationsAll JournalsAAP Grand RoundsPediatricsHospital PediatricsPediatrics In ReviewNeoReviewsAAP NewsAll AAP Sites Search Advanced Search Topics: genetic inheritance, multicystic dysplastic kidney Source: Belk R, Thomas D, Godbole P, et al. A family study and the natural history of prenatally detected unilateral multicystic dysplastic kidney. J Urol. 2002;167:666–669. These authors, from the Leeds Teaching Hospitals, United Kingdom, studied the inheritance of multicystic dysplastic kidney (MCDK). They evaluated 2 groups of patients: families with 2 or more infants with MCDK, and families with 1 affected infant. All patients were identified from a prenatal diagnosis data bank and seen between 1988–1998. The parents and siblings of children with MCDK were assessed by renal ultrasound, blood pressure measurement, urinalysis, and plasma chemistries. Three families with multiple affected children were identified, 2 with 2 affected children and 1 with 3 affected children. They also identified 63 families with a single child with MCDK. All 3 of the families with multiple children with MCDK and 29 of those with a single affected child participated in the study. Among those families with multiple MCDK, screening revealed no additional occurrences of the disorder among the 25 first-degree family members. Two of these families had siblings with MCDK and the third family had 2 siblings, a first cousin, and a child of 1 of the siblings with MCDK (1 adult had an atrophic, cystic, non-functional kidney consistent with involuted MCDK). Ninety-four first-degree relatives of the 29 families with a single child with MCDK were screened and all were negative for the disorder. The authors followed the affected children until a mean age of 6 years and found that blood pressure, serum creatinine, and urinalysis did not reveal any clinically significant problems related to the MCDK. No tumors were identified in the kidneys using serial ultrasound. At a median follow-up of 66 months, 52% of MCDK had involuted so that they were not detectable on ultrasound. Others have demonstrated that MCDK often involutes without treatment.1 The incidence of MCDK in the general population is between 1 in 2,4002 and 4,3001. Although MCDK may occasionally occur on a familial basis, it is usually a sporadic event. While the occurrence of MCDK in siblings may be due to chance, the family with 4 probable involved members may be best explained by autosomal dominant inheritance with variable expressivity and reduced penetrance. The low incidence of familial inheritance and the low risk of MCDK complications lead the authors to advise that routine screening of family members of children with MCDK is not necessary. Further, they propose that children with MCDK do not need prophylactic nephrectomy and should be followed with serial ultrasounds on a medium-term basis (median 66 months) and by lifetime blood pressure monitoring. This is the first published study to analyze the inheritance of MCDK, the second most common significant renal anomaly discovered on prenatal ultrasound, following hydronephrosis. While the study can be criticized for the number of generations and family members examined, the authors effectively examined the closest group of relatives of each affected child. The authors’ conclusion that MCDK is rarely found... You do not currently have access to this content." @default.
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• W2059656468 title "Inheritance of Multicystic Dysplastic Kidney: Is Family Screening Necessary?" @default.
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