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Introduction
Pathogenesis of Autosomal Dominant Polycystic Kidney Disease: Recent Developments 1
Autosomal Recessive Polycystic Kidney Disease 10
Prevalence of Hypertension According to Phenotype and Gender in Autosomal-Dominant Polycystic Kidney Disease 17
Role of Renin-Angiotensin-Aldosterone System and of Sympathetic Activity in Arterial Hypertension Associated with Autosomal Dominant Polycystic Kidney Disease 22
Hypertension of Polycystic Kidney Disease Types 1 and 2 and Its Effect on the Age of Onset of End-Stage Renal Disease 28
Sodium-Lithium Countertransport in Autosomal Polycystic Kidney Disease 31
Inflammatory Cytokine Profile in Autosomal Dominant Polycystic Kidney Disease 35
Extracellular Matrix Abnormality May be Responsible for Cyst Development 38
Mutations and Intragenic Polymorphisms in the Diagnosis of Autosomal Dominant Polycystic Kidney Disease Type 1 45
Expression of Protein Fragments from the Human PKD1 Gene and Production of Rabbit Polyclonal Antibodies to the Recombinant Proteins 49
Molecular Genetic Investigations in Autosomal Dominant Polycystic Kidney Disease. Gene Mutation Detection, Linkage Analysis, and Preliminary ACE Gene I/D Polymorphism Association Studies: An Update 53
Oral-Facial-Digital Syndrome Type 1 Coexisting with Polycystic Kidney Disease 58
Nephronophthisis-Medullary Cystic Kidney Disease Complex: A Report on 24 Patients from 5 Families with Italian Ancestry 61
Renal Manifestations of Tuberous Sclerosis Complex 64
The TSC2/PKD 1 Contiguous Gene Syndrome 76
A Case of Pringle-Bourneville Tuberous Sclerosis with Renal Angiomyolipomas: Clinical and Radiological Aspects 83
Tuberous Sclerosis and Nephrocalcinosis 88
A Tuberous Sclerosis Patient with a Large TSC2 and PKD1 Gene Deletion Shows Extrarenal Signs of Autosomal Dominant Polycystic Disease 91
Tuberous Sclerosis Complex and Early-Onset Autosomal Dominant Polycystic Kidney Disease as a 'Contiguous Gene' Syndrome: Report of a Case 96
Pulmonary Lymphangioleiomyomatosis and Tuberous Sclerosis Complex 98
The Kidney and Von Hippel-Lindau Disease: Impact of Molecular Genetic Analysis of the VHL Gene for Clinical Management 102
Von Hippel-Lindau (VHL) Gene Analysis in Italian Families with VHL Disease 109
Planning Kidney Surgery in Von Hippel-Lindau Disease 112
Alport Syndrome: Clinical and Genetic Correlation in a Type-IV Collagen Disease 116
Clinical and Molecular Diagnosis in Inherited Kidney Diseases: Three Examples 124
Expression of [alpha](IV) Chains in Alrport's Syndrome and its Correlation with Ultrastructural and Genetic Data 129
Molecular Diagnosis of Alport Syndrome: The Experience in Siena 132
X-Linked Alport Syndrome with Normal Distribution of Collagen IV [alpha] Chains in Epidermal Basement Membrane 134
Kidney Transplantation in Alport's Syndrome 140
Primary Hyperoxaluria 143
Renal Pathology in Hyperoxaluria 160
Clinical Aspects of Cystinuria 167
Cystinuria: Recent Advances in Pathophysiology and Genetics 173
Kidney Involvement in Anderson-Fabry Disease 178
Anderson-Fabry Disease. Three Families Detected in Two Years: Unusual Occurrence or Good Interdisciplinary Collaboration? 185
Genetic Approach to the Study of Cellular Ion Transport Anomalies in Idiopathic Calcium Nephrolithiasis 189
Constitutive Nitric Oxide Synthase Gene Expression in Bartter's and Gitelman's Syndrome and Its Relationship to Their Vascular Hyporesponsiveness 193
Familial Hemolytic Uremic Syndrome: Stimulation Linkage Analysis 196
Abnormal Blood Glucose and Insulin Response during Oral Glucose Tolerance Test in Familial Renal Glycosuria 200
Renal Transplantation in Patients with Hereditary Kidney Disease: Our Experience 203
An Information Center for Rare Diseases: A Tool for Epidemiologic and Clinical Studies in Rare Diseases 207
Author Index 211
Subject Index 213