POLY-CYSTIC KIDNEY DISEASE
488
ORIGINAL
PROF-887
POLYCYSTIC KIDNEY DISEASE

DR. MUHAMMAD AKRAM MALIK,
DR. ZAHID IQBAL
FCPS (Surgery), FCPS (Urology)
MS(Urology), DU (Austria)
Senior Registrar
Professor of Urology
Department of Urology
Allied Hospital Faisalabad.
Allied Hospital Faisalabad.
DR. MUNIR AHMED, PGR
Department of Urology
Allied Hospital Faisalabad.
ABSTRACT...Objectives: (1) To document various clinical presentation of disease. (2) To assess family members.
(3) To audit our experience of management of this disease. Study Design: Prospective study. Period: 01-01-2001
to 31-12-2004. Material & Methods: All patients presented with ADPKD were included in the study. Detailed history,
clinical examination was performed in each case. Pain was managed by NSAIDS and USG was done in each case.
Urinary tract infection was treated with antibiotics according to culture sensitivity. Blood pressure was managed by ACE
inhibitors. Stones were treated with URS, ±DJ stents and ESWL. Patients with ESRD were offered renal replacement
therapy in the form of haemodialysis and renal transplant. Results: Total number of patients was 19. Male 10 and 9
Female. Age ranges from 32-65 years. Pain abdomen and flank was main presenting complaint in 95% patients. Fever
& renal stones were present in 10(53%) and 08(42%) of patients respectively. Extra renal manifestations were present
in 02(11%) of patients. 06 patients progressed to ESRD. 03 patients died due to ESRD. Parents of 04 patients had
ADPKD. Majority 10(52%) could not be evaluated. 06 Patients (21%) had their sisters and brothers involved with
ADPKD. DJ Stenting and ESWL was the only surgical management done. Conclusion: ADPKD is hereditary disorder.
No cure is possible. Management of this disease by medication and surgery only slows the progress of renal failure.
Counseling should be done to avoid cousin marriage in affected families. Chromosome analysis facilities should be
available to affected families free of cost for early detection of disease.
Key words:
ADPKD, PKD, Renal cysts, ESRD, Renal transplant.
INTRODUCTION
is one of the most common inherited disorders in the
Autosomal dominant ploy-cystic kidney disease (ADPKD)
man . I
1,2
t is the most frequent genetic cause of renal
Professional Med J Dec 2006; 13(4): 488-493.
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POLY-CYSTIC KIDNEY DISEASE
489
failure in adults, accounting for 10% of patients on
occurs in 35% of ADPKD patients. Patients usually
dialysis in United States . ADPKD is a multi systemic
3,4
develop renal failure in fourth to sixth decade of life1,19.
and generally a progressive disorder characterized by
formation and generally a enlargement of renal cysts in
Patients may present with stroke due to associated
the kidney and other organs, liver, spleen and pancreas
cerebral aneurysm, or abdominal pain due to aortic
etc5. Due to autosomal inheritance, each off spring has
aneurysm .
10 Symptoms generally increase with age. Very
50% chance of inheriting the disorder . ADPKD is a
6,7
rarely, children present with renal failure from ADPKD13.
genetically heterogeneous condition with at least 3
genes involved as follows .
8,9
Palpable bilateral flanks masses, nodular hepatomegally
due to poly-cystic liver disease and signs of renal failure
•
PKD1 is located on 16 p 13.3 and accounts for
may be the presenting complaints5.
majority (85%) of cases.
•
PKD2 is located on 4 q 22 and accounts for 15%
Ultrasonography is the most useful imaging technique for
of ADPKD cases.
the diagnosis of ADPKD. It is also useful for exploring
•
PKD3 is rare and yet not mapped.
the extra renal cysts in pancreas, liver5,20. Diagnostic
criteria for ADPKD1 were established by Ravine et al in
The main features of ADPKD is bilateral progressive
1991 and these are21.
cystic dilatation of renal tubules. Hepatic cysts,
pancreatic cysts, cerebral aneurysms, cardiac valvular
•
At least 2 cysts in 1 kidney or 1 cyst in each
anomalies and vascular anomalies may also occur10.
kidney in at risk patient younger than 30 years
old.
Although, ADPKD is a systemic disease, it shows a focal
•
At least 2 cysts in each kidney in at risk patient
expression because less than 5% of nephrons become
aged 30-59 years.
cystic11. As the disease is mainly caused by truncating
•
At least 4 cysts in each kidney for at risk patient
mutations in PKD1 and PKD2 genes, inadequate levels
aged 60 or older.
of poly-cystic (haplo insufficiency) may cause ADPKD12.
•
Presence of hepatic or pancreatic cysts
supports diagnosis.
Clinical features of ADPKD usually begin in the 3rd to 4th
decade of life but cysts may be detected in the childhood
CT scan is more sensitive than USG and can detect
and in utero .
13
cysts of 0.5 cm in size, but involves radiation and is
expensive20. Genetic testing is available by means of
Pain is one of the most common symptoms of ADPKD,
DNA linkage analysis. It has accuracy rate of more
occurring in 50% of affected individuals. Low back pain,
than99% for ADPKD1 and ADPKD2. This is performed
abdominal pain, headaches, chest pain and leg pain may
on blood .
8,9
be the presenting complaint of ADPKD .
14
Treatment of ADPKD is medical as well as surgical.
Hematuria occurs in 30-35% affected patients and
Medical treatment includes22 .
,23
usually is self limited lasting for less than one week15.
Hypertension is present in 10-15% of children and 60-
•
Non hypertensive ADPKD patient should have
70% of adults before the onset of renal failure in these
USG once a year.
patients16,17 .
,18
•
More frequent visits for hypertensive patients.
Patients with renal failure needs more frequent
A decrease in urine concentrating ability may be
monitoring depending upon the severity of the
detected in early stage of disease. Micro albuminuria
condition. Medical therapy is necessary to
Professional Med J Dec 2006; 13(4): 488-493.
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POLY-CYSTIC KIDNEY DISEASE
490
accomplish following.
MATERIAL & METHODS
•
Control of blood pressure up to 130/85. If urinary
Study was conducted at Department of Urology Allied
protein is more than 18gm/day, target blood
Hospital Faisalabad from 01 June 2001-Dec. 2004. All
pressure should be less than 125/75 mm/Hg. By
patients presented with the symptoms and signs of poly-
achieving good blood pressure control
cystic kidney and its various complications were included
progression of renal disease can be slowed. The
in the study.
drug of choice is ACE inhibitors. It also helps to
decrease the progression of renal disease 23.
Patients presented by other symptoms and incidentally
•
Control abnormalities related to renal failure like
picked up by ultrasonography were also included in the
h y p e r k a l e m i a , h y p e r p h o s p h a t e m i a ,
study. Detailed history and clinical examination was
hypocalcemia, acidosis, hyperparathyroidism.
performed in each case. Urine C/E, urinary proteins,
•
Treat urinary tract infections.
CBC, blood sugar, blood urea & serum creatinine were
•
ADPKD may need renal replacement therapy in
performed in all patients for the presence of renal and
the form of haemodialysis, peritoneal dialysis.
extra renal cysts. Patients were advised for close
monitoring of blood pressure and in case of
Surgical treatments includes decompression of cysts for
hypertension, ACE inhibitors (capoten) were advised to
pain relief, drainage of infected cyst by percutaneous
keep their blood pressure less than 130/85.
ultrasound guided aspiration22 . R
,24
educing the cyst by
sclerosing agent with alcohol and deroofing by
•
They were advised to avoid contact sports.
laparoscopy is another option22 .
,24
•
Patients presented with infected cysts were
treated by aspiration and antibiotics according to
Nephrectomy in ADPKD is indicated for massive cysts
culture and sensitivity. Nephrectomy was
(>40cm), in a transplant candidate for space required for
planned in cases of recurrent infections and
graft, with recurrent infections or with possible
large cyst (< 40m).
malignancy25.
Patients of ADPKD presented with stones were treated
Patients should be advised to sports to avoid trauma to
by ESWL, URS ± DJ stenting. Patients who presented
back or abdomen especially in large palpable kidney.
with renal failure were offered renal replacement therapy
Patients should be educated that there is no cure.
in the form of haemodialysis and transplant. Patients with
Interventions and therapies only slow progress. Pre-
hypertension, symptoms of pain were followed up with
implantation genetic diagnosis can be made for
interval of 15 days. Patients without any symptoms were
achieving poly-cystic kidney free pregnancy in couples
followed up with the internal of three months.
having one partner affected by ADPKD26. There is very
little research work done in our country on this hereditary
Blood pressure monitoring, urine examination, urinary
disorder.
protein examinations and ultrasound of kidney ureter
bladder was done at each visit. Patients with established
Objectives
renal failure were managed by maintenance dialysis. A.V
1.
To document various clinical presentation of
fistula on radial artery or brachial artery at wrist or outer
ADPKD.
side of elbow was made for permanent venous access.
2.
To assess the family members of patients
having poly-cystic kidney disease.
RESULTS
3.
To audit our experience of management of
This study was conducted at the Department of Urology
complication of this disease.
Allied Hospital Faisalabad from 01-01-2001 to 31-12-
2004. A total of 19 patients were included in the study.
Professional Med J Dec 2006; 13(4): 488-493.
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POLY-CYSTIC KIDNEY DISEASE
491
Ten (10) patients were male and 09 patients were
performed in any patient. Hypertension was detected in
female, with a ratio of 1.1:0.9 (Fig-1). Age of presentation
14(74%) of patients. These patients were treated with
ranges from 32 years to 65 years with a mean age of
ACE inhibitors and blood pressure was controlled. Rise
44.5 years (Table-I).
in renal profiles up to creatinine level of 4.0 mg was
detected in 04(21%) patients. Patients in which urinary
tract infection was detected were treated with antibiotic
according to culture and sensitivity of urine.
Families of patients were investigated by detailed history,
clinical examination, ultrasound KUB and abdomen,
urine examination. Father/mother of 04(21%) patients
had PKD. 02(10.5%) were normal and 03(16%) died of
CVA. In 10(52.6%) patients, mother/father could not be
evaluated due to their death (majority unknown case).
04(21%) patients had one sister/brother in their family of
having ADPKD and 02(10.5%) had two brother/sisters
involved by ADPKD. None of patients had ADPKD in
their children detected by USG, KUB and abdomen
neither of these had any evidence of its complication.
Retrograde stenting (DJ Stent) had to be performed in
Abdominal pain and flank pain was the presenting
two patients to relieve ureteric obstruction followed by
complaint in majority 18(95%) of patients. Fever was
ESWL.
present in 10(53%) patients. Renal stones were present
in 08(42%) cases. Nausea/vomiting and hematuria were
present in 13(68%) and 05(26%) patients respectively
(Fig-2).
Table-I. Age distribution of patients
Age group
No. of patients
% Age
30-40 Yrs
08
42%
41-50 Yrs
07
37%
51-60 Yrs
03
16%
61-70 Yrs
01
05%
Extra renal manifestation of ADPKD was present in
02(11%) patients, having cysts in liver in addition to poly-
cystic kidneys. 06(32%) patient had to be given renal
DISCUSSION
replacement therapy in the form of haemodialysis, at
ADPKD is a hereditary disorder. No specific medication
different time’s of this study. 03(16%) of these patients
is available to treat this disease. Clinical presentation
died in this period. Renal transplant could not be
and male to female ratio in this study are similar to other
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POLY-CYSTIC KIDNEY DISEASE
492
series reported in literature14 .
,15
Hypertension and its control is very important aspect of
medical management. With the help of ACE inhibitors all
Diagnosis and evaluation of family for ADPKD in this
the patients have controlled blood pressure most of the
series depended on the presence of bilateral renal cysts
time less than 130/90 mm Hg. Hypertension was
in patients and their family members.
managed effectively by ACE inhibitors like other series23.
In contrary confirmation of diagnosis and early pick up in
Patients who developed ESRD were offered renal
family members were done in other series by
replacement therapy in the form of haemodialysis and
chromosome analysis7
renal transplants. All 06 patients were initially dialyzed
with temporary venous access through right subclavian
Chromosomal analysis is helpful in early diagnosis of
vein. Later on permanent venous access was made on
ADPKD. Monitoring of these patients can be started at
left radial artery above wrist joint in all patients.
earlier age to delay the onset of complications.
As a policy of our department, we don’t accept non
Due to poverty of patients and lack of chromosome
related donors. Only related donors are accepted. 03
analysis facility free of cost was the main cause of
patients died during this period. 03 patients with ESRD
missing this important investigation in our series. Due to
are on maintenance dialysis. They have been advised
lack of financial resources, we were unable to perform
renal transplant. But due to non availability of donors we
this essay and due to this reason were unable to detect
could not perform transplant surgery in these patients as
the patient of ADPKD before any clinical presentation or
yet.
complications.
CONCLUSION
Pain was the main presentation by the patient in this
ADPKD is autosomal dominant hereditary disease
series. All the patients were managed by analgesics
having no specific therapy.
(NSAIDS and antispasmodics).
Early diagnosis and specific measures like control of
Per-cutaneous cyst aspiration, deroofing or nephrectomy
blood pressure, infections, hematuria, proteinurea may
was not performed in any case to manage the pain,
delay the onset of ESRD.
infection or hematuria.
Patients and their relatives should be explained that
This was in contrary to other series in which
there is no cure of this disease.
nephrectomy was performed to relieve pain, recurrent
infection and hematuria25
Counseling should be done to the patients of ADPKD to
avoid cousin marriage to decrease the likelihood of
Culture and sensitivity of urine was performed in patient
passing the disease to next generation with increase
having urinary tract infections. They were given
frequency.
antibiotics according to culture and sensitivity reports for
cure of infection.
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