Polycystic Kidney Disease

DESCRIPTION

Inherited disorders characterized by the development and growth of cysts in the kidneys; lined by epithelium, filled with fluid or semi-solid debris; accounts for 5-10% of patients with end stage renal disease

System(s) affected: Renal/Urologic
Genetics: See Causes
Incidence/Prevalence in USA: 1/200-1/1000
Predominant age: Usually diagnosed by age 45
Predominant sex: Male = Female

SIGNS AND SYMPTOMS

Hypertension
Hematuria; microscopic or macroscopic
Palpable kidneys
Hepatomegaly
Abdominal pain
Flank pain (60%)
Headache
Nocturia
Dysuria
Urinary frequency
Polyuria

CAUSES

Inherited autosomal dominant abnormality linked to chromosome 16. 90% penetrance by age 90 in gene carriers. A second gene on chromosome 4 recently identified. Rare autosomal recessive form exists in neonates. Offspring of affected individuals with 50% chance of acquiring disease. Can be detected in amniocentesis.
Acquired polycystic kidney disease - found in 50% of patients on dialysis > 3 years

RISK FACTORS

Dialysis

LABORATORY

Hematocrit - elevated in 5% of cases
Urinalysis - may have hematuria and mild proteinuria
Serum creatinine - may be elevated
Kidney stones - usually calcium oxalate

Drugs that may alter lab results: N/A
Disorders that may alter lab results: N/A

PATHOLOGICAL FINDINGS

N/A

SPECIAL TESTS

Gene linkage analysis
- Helpful for suspected cases with nondiagnostic imaging
- Expensive
- Requires other family members

IMAGING

Ultrasonography: > 5 cysts in the renal cortex or medulla of each kidney, in children, 2 or more cysts in either kidney
CT scan more sensitive
85% of patients can be detected by age 25

DIAGNOSTIC PROCEDURES

N/A

APPROPRIATE HEALTH CARE

Outpatient except for complicating emergencies (infected cysts require 2 weeks IV antibiotics then long-term oral antibiotics)

GENERAL MEASURES

Pain - bed rest and analgesics
Hematuria (due to ruptured cyst) - bed rest, sedation, IV hydration

SURGICAL MEASURES

Renal transplant, by age 6-8 years, for autosomal recessive form

ACTIVITY

Avoid contact activities that may damage enlarged organs.

DIET

Low protein diet may retard progression of renal disease.

PATIENT EDUCATION

Genetic counseling is critical
Avoidance of nephrotoxic drugs

PREVENTION/AVOIDANCE

Genetic counseling

POSSIBLE COMPLICATIONS

Progression to renal failure
Renal calculi in up to 30%
Cyst infection
Cyst rupture

EXPECTED COURSE AND PROGNOSIS

The disease is slowly progressive and has a variable outcome
End stage renal disease occurs in 70% of patients by age 65
Acquired disease with 5% adenocarcinoma, cysts regress after renal transplant, once nonazotemic

ASSOCIATED CONDITIONS

Cerebral aneurysms present in 10-40% of patients
Colonic diverticula in 80%
Liver cysts in approximately 50%
Pancreatic and ovarian cysts
Mitral valve prolapse in 26%

AGE-RELATED FACTORS

Pediatric: N/A
Geriatric: Renal insufficiency in 50% of patients by age 70, accounts for 5-10% of dialysis patients.
Others: Hypertension is secondary to high renin. Responds to angiotensin converting enzyme (ACE) inhibitors.

PREGNANCY

Higher frequency of new onset hypertension than in women without polycystic kidney disease. No adverse effect on the course of the polycystic kidney disease in asymptomatic patients. Patients with hypertension, proteinuria or renal insufficiency are at increased risk of complications. Also an increase in hepatic cysts with pregnancy (rarely a problem).

OTHER NOTES

N/A

ABBREVIATIONS

N/A

Clinical Investigations

ROLE OF HOMOEOPATHY

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