Author: Ms Christa Maria Joel Moderator- Dr. Amith D' Souza Department of Internal Medicine Father Muller Medical College 4th Year MBBS

1. Diagnosis and treatment of
polycystic kidney disease
CHRISTA MARIA JOEL
MODERATOR: DR. AMITH D’SOUZA

2. Diagnosis of ADPKD
Typically made from a positive family history consistent with autosomal
dominant inheritance and multiple kidneys cysts bilaterally.
Renal ultrasonography used- for presymptomatic screening of at risk subjects
and for evaluation of potential living related kidney donors from ADPKD families.
Presence of at least 2 renal cysts (unilateral or bilateral): diagnosis among at
risk subjects between 15 and 29 years of age.
Presence of at least 2 cysts in each kidney: diagnosis of at risk subjects
between 30 and 59 years of age.

3. Diagnosis of ADPKD
Presence of at least 4 cysts in each kidney : diagnosis of at risk subjects 60
years and above.
Increased frequency of developing simple renal cysts with age.
CT scan & T2- weighted MRI, with and without contrast enhancement- more
sensitive than USG and can detect cysts of smaller size.
Disadvantage of CT scan- exposes patient to radiation which can cause allergic
reactions and nephrotoxicity in patients with renal insufficiency.
T2 weighted MRI with gadolinium contrast- can detect cysts of only 2-3 mm in
diameter, has minimal renal toxicity.

5. Diagnosis of ADPKD
Large majority of cysts may still
be below detection level.
Molecular diagnosis by
mutation screening of PDK1 and
PDK2 but this is seldom used.

6. Treatment for ADPKD
No specific treatment as such.
Potential strategies:
Vasopressor receptor antagonists: inhibit cAMP in principal cells, reduce cyst
growth, slow rate of progression of renal failure. Disadvantage: liver toxicity.
Vaptans: conivaptan , demeclocycline and lithium.
Octreotide: a long acting somatostatin analogue, beneficial in halting growth of
renal and liver cysts.

7. Treatment for ADPKD
Blood pressure control- to a target of 140/90 mmHg recommended to reduce
cardiovascular complications and renal disease progression.
Main approach is to control blood pressure by inhibiting renin angiotensin
aldosterone system.
Maintaining a target SBP to 110 mmHg in patients with moderate or advanced
disease may increase risk of renal disease progression by reducing renal blood
flow.
Angiotensin converting enzyme inhibitors and angiotensin II receptor blockers.

8. Treatment for ADPKD
Lipid soluble antibiotics such as trimethoprim- sulfamethoxazole, quinolones
and chloramphenicol are preferred for cyst infection. Treatment: requires 4-6
weeks.
Kidney stones: analgesics for pain relief, hydration to ensure adequate urine
flow.
Chronic flank, back or abdominal pain: pharmacological measures such as
narcotic analgesics and non pharmacological such as transcutaneous electrical
nerve stimulation, acupuncture.
Occasionally, surgical decompression of cysts may be necessary.

9. Treatment for ADPKD
More than half the patients require peritoneal dialysis, haemodialysis or
kidney transplantation.
Peritoneal dialysis- may not be suitable for patients with massively enlarged
polycystic kidneys.
Due to small intra abdominal space for efficient peritoneal exchange of fluid
and solutes and increased chance of abdominal hernia and back pain.
Patients with very large polycystic kidneys and recurrent renal cyst infection
may require- transplant nephrectomy or bilateral nephrectomy to accommodate
allograft and reduce pain.

10. Diagnosis of ARPKD
USG, CT and MRI can be used for
diagnosis.
USG- large, echogenic kidneys with
poor corticomedullary differentiation.
Diagnosis can be made in utero after
24 weeks of gestation in severe cases.
Macro cysts are generally not
common at birth in ARPKD patients.

11. Diagnosis of ARPKD
Absence of renal cysts on USG in
either parent particularly if they are
more than 40 years of age- helps
distinguish ARPKD from ADPKD in
older patients.
Clinical, laboratory or radiographic
evidence of hepatic fibrosis, hepatic
pathology demonstrating characteristic
ductal plate abnormalities.

12. Diagnosis of ARPKD
Family history of affected siblings or parental consanguinity suggestive of
autosomal recessive inheritance is helpful.
Presymptomatic screening of other at risk members in a family with already
identified ARPKD mutations is straightforward and inexpensive.

13. Treatment for ARPKD
No specific therapy.
Appropriate neonatal intensive care, blood pressure control, dialysis and
kidney transplantation increases survival into childhood.
Complication of hepatic fibrosis- liver transplantation.
Patients with severe Caroli’s disease: portosystemic shunting.