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Article renal disorders
Congenital Kidney Abnormalities:
Diagnosis, Management, and Palliative Care
Jennifer N. Cohen, MD,* Steven Alan Ringer, MD, PhD*
This article describes major kidney disorders of genetic origin and disordered embryonic development. The most common disorders, includingpolycystic kidney disease and the various forms of renal dysplasia, are discussed and contrasted, including identiﬁable abnormalities on prenatal and postnatal evaluation, management in the neonatal period, and evaluation and management in childhood. For the most severely affected fetuses and newborns, a comprehensive approach to prenatal counseling and palliative care of the newborn is described.Author Disclosure Drs Cohen and Ringer have disclosed no ﬁnancial relationships relevant to this article. This commentary does not contain a discussion of an unapproved/ investigative use of a commercial product/ device.
After completing this article, readers should be able to:
1. Describe the major types of kidney diseases due to genetic abnormalities or congenital malformations.2. Delineate the basics of normal renal embryology and the potential mechanisms responsible for abnormalities. 3. Discuss the presentation, evaluation, and management of polycystic kidney disease and various types of renal dysplasia. 4. Outline the need for comprehensive prenatal counseling and palliative care for fetuses and newborns with severe forms of renal disease.
Severalkidney disorders that present during fetal life or in the newborn period are either congenital malformations or part of an inherited disorder. The malformations are usually sporadic, often with a poorly deﬁned pathogenesis. The inherited lesions, in contrast, frequently have clear inheritance patterns such as autosomal dominant or recessive, and in many cases, the locus of the abnormal gene and theassociated abnormal protein have been identiﬁed. The Table lists the major anatomic abnormalities in these categories. Although there is no curative therapy for these disorders, considerable care can be required, including monitoring and renal replacement, as well as signiﬁcant focus on the critical comorbidities and abnormalities in renal function. The most severe of these conditions areincompatible with prolonged survival, and the care needed for affected patients requires special considerations for comfort of the patient and support of the family.
Following the development and regression of the early pronephros and the intermediate mesonephros (a remnant of which forms the Wolfﬁan or mesonephric duct), normal development of the true kidney begins with the appearance ofthe metanephros in the ﬁfth week of gestation (Fig. 1). The metanephric mesenchyme forms at the same time as the ureteric bud grows out of the mesonephric duct, and these two early structures reciprocally interact and promote the differentiation of each other. The mesenchymal cells proliferate and differentiate, with part of them ultimately forming the nephrons, including the glomeruli and...