Cystic and Inherited Diseases of the Kidney

I.   Program Content

1. Trainees should acquire knowledge of the following areas with emphasis on:

1. Genetics or inherited diseases.
   a.   Understanding of Mendelian genetics.
   b.  Understanding of gene linkage analysis.
   c.  Knowledge of chromosomal localization and characteristics of the
        gene responsible for the more  common inherited renal disorders.

2. The clinical, diagnostic and epidemiologic differences between simple, acquired, and inherited cystic disorders and their potential for renal malignancies.

3. Diagnosis of inherited and cystic disease.
   a.  Use of linkage analysis and mutational analysis in the screening.
   b.  Role of urinalysis, renal function testing and radiologic testing.
   c.  Possibilities of prenatal diagnosis and pretest counseling.

4. Approach to symptomatic patient.
   a.  Familiarity with the natural history of inherited cystic and non-cystic
       disease.
   b.  Knowledge of clinical presentations.

5. Treatment.
   a.  Knowledge of strategies to manage progression of renal failure,
       proteinuria, and hypertension in non-cystic inherited disease.
   b.  Knowledge of management of patient, hypertension, renal stone,
       hematuria, infection, and progressive renal failure in patients with
       cystic disease.
   c.  Familiarity with management of extrarenal manifestation of ADPKD -
        mitral valve prolapse diverticular disease, intracranial aneurysm and
        hepatic cystic disease.

II.   Patient Care Experience

1. Trainees should have experience in the diagnosis and management of:

1. Various forms of cystic renal disease with particular emphasis on ADPKD and its various renal and extrarenal complications.

2. Trainees should have experiences in the diagnosis and management of patients with non-cystic inherited diseases with emphasis on Alport’s syndrome and its renal and extrarenal complications.

3. Trainees should be familiar with the principles of genetic counseling of patients with inherited renal disorders.