[Frontiers in Bioscience 4175-4197, May 1, 2008]

Clinical manifestations of hereditary cystic kidney disease

Rajeev Rohatgi

Departments of Medicine and Pediatrics, The Mount Sinai School of Medicine, One Gustave L. Levy Place, New York, New York 10029

TABLE OF CONTENTS

1. Abstract
2. Introduction
3. Autosomal dominant polycystic kidney disease (ADPKD)
3.1. Genetics
3.2. Clinical Manifestations
3.2.1. Epidemiology
3.2.2. Renal Manifestations
3.2.2.1. Hypertension
3.2.2.2. Urinary concentrating ability
3.2.2.3. Cystic complications
3.2.3. Extra-renal Manifestations
3.2.3.1. Hepatic cysts
3.2.3.2. Vascular complications
3.2.3.3. Miscellaneous
4. Autosomal recessive polycystic kidney disease (ARPKD)
4.1. Genetics
4.2. Clinical Manifestations
4.2.1. Epidemiology
4.2.2. Renal Manifestations
4.2.3. Extra-renal Manifestations
5. Nephronophthisis (NPHP)-Medullary Cystic Kidney Disease (MCKD) complex
5.1. Nephronopthisis (NPHP)
5.1.1. Genetics
5.1.2. Clinical Manifestations
5.1.2.1. Epidemiology
5.1.2.2. Renal Manifestations
5.1.2.3. Extra-renal Manifestations
5.2. Medullary Cystic Kidney Disease (MCKD)
5.2.1. Genetics
5.2.2. Clinical Manifestations
5.2.2.1. Epidemiology
5.2.2.2. Renal Manifestations
5.2.2.3. Hyperuricemia
6. Bardet-Biedl Syndrome (BBS)
6.1. Genetics
6.2. Clinical Manifestations
6.2.1. Epidemiology
6.2.2. Renal Manifestations
6.2.3. Extra-renal Manifestations
7. Oral-Facial-Digital Syndrome 1 (OFD1)
7.1. Genetics
7.2. Clinical Manifestations
7.2.1 . Epidemiology
7.2.2. Renal Manifestations
7.2.3. Extra-renal Manifestations
8. Miscellaneous hereditary PKD syndromes
8.1. ADPKD associated with Tuberous Sclerosis (TSC)
8.2. ADPKD associated with von Hippel-Lindau
9. Therapeutics in PKD
10. Conclusions
11. Acknowledgments
12. References

1. ABSTRACT

Genetic mutations of discrete loci are the cause of a diverse array of polycystic kidney disease syndromes which present in distinct, as well as overlapping, phenotypic and hereditary patterns. Since molecular diagnostics are not currently a feasible clinical tool for the diagnosis of most cystic kidney diseases, physicians must rely upon their clinical acumen and knowledge base in order to identify these patients. The goal of this manuscript is to review the hereditary patterns, basic epidemiology, and phenotypic features of the most common of the cystic renal diseases so as to increase the awareness of these renal diseases among practicing physicians. Specifically, the genetic and phenotypic features of autosomal dominant polycystic kidney disease, autosomal recessive polycystic kidney disease, nephronopthisis-medullary cystic kidney disease complex, Bardet-Biedl syndrome, and oral-facial-digital syndrome type 1 will be reviewed.