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Current diagnostic evaluation of auto somal dominant polycystic kidney disease
Autosomal dominant polycys-
tic kidney disease (ADPKD) is one of the most
common genetic disorders associated with a de-
fect in a single gene and at the same time one of
the most common causes of chronic renal fail-
ure (CRF). e symptoms are developed usually
in one’s 30s or 40s, and at the age of 60 approx-
imately 50% of patients require renal replace-
ment therapy.1 erefore, ADPKD is commonly
encountered in nephro logical practice and in out-
patient care. e diagnosis of ADPKD is not diffi-
cult in most cases, nevertheless, in some patients
establishing a diagnosis or excluding the disease
may raise doubts. e diagnosis is relevant in re-
spect of prognosis. Until the age of 70, as many as
77% of ADPKD patients will start renal replace-
ment therapy or die, mainly due to cardiovascu-
lar complications.2
Recently, a considerable progress in the under-
standing of the background and course of the dis-
ease has been made. us, an early diagnosis and
appropriate care acquire particular significance.
e techno logical development of imaging, genet-
ic and molecular tests have brought new oppor-
tunities in the diagnostic evaluation of ADPKD.
e objective of this paper is to present which of
Current diagnostic evaluation of auto somal
dominant polycystic kidney disease
Wojciech Wołyniec
1
, Magdalena Maria Jankowska
1
, Ewa Król
1
,
Piotr Czarniak
2
, Bolesław Rutkowski
1
1 Department of Nephrology, Transplantology and Internal Medicine, Medical University, Gdańsk, Poland
2 Department of Renal Diseases and Hypertensiology for Children and Adolescents, Medical University, Gdańsk, Poland
Correspondence to:
Wojciech Wołyniec, MD, PhD,
Klinika i Katedra Nefrologii,
Transplantologii i Chorób
Wewnętrznych, Akademia Medyczna,
ul. Dębinki 7, 80-211 Gdańsk,
Poland, phone: +48-58-349-25-51,
fax: +48-58-349-25-51,
e-mail: wwolyniec@wp.pl
Received: March 17, 2008.
Revision accepted: May 14, 2008.
Conflict of inter est: none declared.
Pol Arch Med Wewn. 2008;
118 (12): 767-773
Translated by Iwona Rywczak,
MD, PhD
Copyright by Medycyna Praktyczna,
Kraków 2008
Despite changing epidemiology of chronic kidney disease, auto somal dominant polycystic kidney
disease (ADPKD) is one of the most prevalent causes of end stage renal disease. The first symptoms
of the disease occur usually in the 3rd or 4th decade of life, however, it can often be diagnosed
much earlier. Advances in the understanding of the disease may lead, in the near future, to slowing
the progression of ADPKD in asymptomatic individuals. ADPKD is diagnosed on the basis of family
history (autosomal dominant inheritance) and radio logical imaging. Ultrasound examination (US) of
the kidneys is the most important imaging diagnostic method. US is highly sensitive and specific
in patients >30 years of age. In US, Ravine criteria are applied and their modifications with other
imaging techniques (computed tomography [CT], magnetic resonance [MR]). In all cases, however,
there are multiple cysts in both kidneys and, importantly, concomitant renal enlargement can be
observed, which is typical of ADPKD. High expectations for early ADPKD diagnosis are risen by gene-
tics and proteomics. However, these methods are not used routinely. The most sensitive para meter
in the evaluation of the disease progression is total renal volume. This para meter is presently used
in clinical studies, but its utility in monitoring an individual patient has not been fully proven. Unfor-
tunately, MR and CT are expensive and in case of significantly enlarged kidneys US does not yield
accurate assessment of their size and is not sensitive enough for monitoring the disease progression.
The rate of glomerular filtration rate (GFR) decline is usually constant. Therefore, it is important to
monitor GFR in individuals who have developed renal insufficiency. Other tests, including markers
of kidney injury, e.g. albuminuria, or vascular flow para meters, are used mainly in clinical studies.
Thus, before more efficient therapeutic approaches have been developed, an early diagnosis and
prevention of the disease complications are most essential.
auto somal dominant
polycystic kidney
disease, chronic
kidney disease,
Ravine criteria renal
cysts, renal
ultrasound
examination
POLSKIE ARCHIWUM MEDYCYNY WEWNĘTRZNEJ 2008; 118 (12)
a basic imaging test. e test sensitivity can be
illustrated by the data according to which in ul-
trasonography cysts are found in 89% of ADPKD
patients >30 years of age.7
It is justified to ask a question as to when the
first ultrasound examination (US) should be per-
formed. e answer is not unambiguous. No low-
er age limit has been determined, however, it is
well known that ultrasonography preformed in
the first years of life is of little diagnostic signif-
icance. Admittedly, cysts may be already present
in the first year of life and even in fetal life8, but
the lack of cysts does not necessarily exclude the
disease. e relationship between the number
and size of cysts and the patient’s age causes dif-
ficulty in ADPKD diagnosis in children. Certain-
ly, US should be performed between the age of
20 and 30 when the probability of positive diag-
nosis is accompanied with potential prophylaxis
introduction or treatment of the disease compli-
cations. Ultrasonography at the age of 30 at the
latest should be a standard measure if previous-
ly that test has not been performed or to date
tests have not shown lesions, and when the dis-
ease symptoms have developed.1,3,4
Of note, the classic ultrasound criteria for diag-
nosis of a simple cyst involve a round shape and
sharp borders of the lesion, smooth wall without
septums or calcification, echo-free inter ior and
acoustic amplification proportional to its size.
Single cysts should always be distinguished from
hematoma, abscess, or cancer.7
Currently, Ravine criteria, presented in ,
are commonly applied in ADPKD diagnosis.
1,3 ,9,10
Positive family history remains relevant. Ra-
vine criteria are applicable only to people with
ADPKD type 1 family history. For ADPKD type
2, the criteria specified in are of limited
value. eir sensitivity for persons <30 is only
67% (compared with that for ADPKD type 1 of
100%).3 is group suggested different criteria11,
presented in .
As shown in the table, a diagnosis <14 years of
age is unlikely. On the other hand, the applied cri-
teria offer almost 100% certainty of diagnosis in
persons >30.
11
Irrespective of a patient’s age, the
ultrasound criteria and a disease type, it should
be kept in mind that except for the presence of
cysts, a characteristic feature of ADPKD is renal
enlargement.1
e diagnosis may also be established based on
other imaging techniques, like computed tomog-
raphy (CT) and magnetic resonance (MR). High
costs of these tests limit their application to es-
tablishing the diagnosis in unclear cases, e.g. in
very young persons. It should be borne in mind
that these tests are more sensitive than ultra-
sonography, thus Ravine criteria cannot be ap-
plied. In approximately 17% of healthy persons
between 18 and 29, ≥2 cysts are found, usually <1
cm in diameter.
12
If only all the cysts of that size,
presented in , were eliminated, Ravine cri-
teria could be used in CT diagnosis. It is worth
mentioning that separate MR criteria for persons
the numerous tests available are considered the
“gold standard” in ADPKD diagnostics and at what
stage of the disease they should be performed.
e basis for ADPKD diagnosis is fami-
ly history and imaging studies.
Due to the auto somal dominant
type of inheritance, the morbidity risk for siblings
and offspring of an ADPKD patient is 50%. Fami-
ly history should serve to determine the existence
or non-existence of that risk. It should be a stan-
dard procedure to perform further tests on each
person with a 50% risk of developing ADPKD. As
a rule, ADPKD is diagnosed in 1 of the parents. If
there is no ADPKD patient in a numerous family,
the probability of positive diagnosis is markedly
lower. e exception is a de novo mutation when
a patient does not inherit the disease but trans-
mits it. In case of people with no family history,
the risk of ADPKD development is the same as in
the general population, i.e. 1/1000.3-5
e other factor essential in
ADPKD diagnosis is an imaging test. Only 20 or
so years ago, urography, renal arteriography and
scintigraphy were the basis of diagnostic imag-
ing.
6
Urographic tests sometimes wrongly sug-
gested the presence of kidney cancer and, as a
consequence, patients were exposed to unnec-
essary surgery.
6
Currently, due to low costs, re-
producibility and availability, ultrasonography is
Ravine criteria applied in ultrasound diagnostics of autosomal dominant
polycystic kidney disease type 1
Age (years) Number of cysts
Positive family history Negative family history
<30 at least 2 in 1 or both kidneys at least 5
30–59 at least 2 in each kidney at least 5
>60 at least 4 in each kidney at least 8
Criteria applied in ultrasound diagnostics of autosomal dominant
polycystic kidney disease type 2
Age (years) Number of cysts
15–19 1 in each kidney or 2 unilaterally
20–29 >3 altogether, at least 1 in each kidney
30–59 at least 2 in each kidney
>60 at least 4 in each kidney
Diagnostic criteria for autosomal dominant polycystic kidney disease in
magnetic resonance
Age (years) Number of cysts in both kidneys
<30 at least 5
30–44 at least 6
45–59 (females) >6
45–59 (males) >9
Current diagnostic evaluation of auto somal dominant polycystic kidney disease
At least several dozens of proteins
obtained from the bio logical material from
ADPKD patients (serum, urine, liquid obtained
from the cysts) are overexpressed. is observa-
tion enables to seek a marker useful in the di-
agnosis and monitoring of the disease. Among
those proteins, the following have been identi-
fied: growth factors, apoptosis regulators, trans-
porting proteins, receptor proteins, signal pro-
teins, enzymes, transcription factors, and oth-
ers. Currently, those proteins are not used in rou-
tine practice.13
In most ADPKD patients, the
diagnosis is currently established in the asymp-
tomatic period during screening of the patient’s
kindred or by chance. Nevertheless, ADPKD is a
disease of variable symptomatology and some
symptoms may encourage to broad en diagnostic
evaluation. e first and common symptom, al-
though usually unnoticed, is urine condensation
disorders and associated with slight polyuria. It is
estimated that even 60% of children with ADPKD
do not condensate urine when desmopressin is
administered.
3,15
Other common clinical symp-
toms and lesions found by chance during control
tests are as follows: hypertension (in later stages
of the disease: 100% of patients), acute or chron-
ic pain: 60%, hematuria: 50%, urinary tract in-
fection: 20% in males and 60% in females, lith-
iasis: 20%. Cysts in the liver are found in 80% of
60-year-old patients, other lesions include mitral
valve prolapse: 20–25%, brain artery aneurysms:
8%, pancreatic cysts: 9%, hernias: 20%, and in-
testinal diverticulosis.3,4
In most cases, ADPKD di-
agnosis leaves no doubt. Mistakes are predomi-
nantly caused by inexperience of the examiner.
e diagnosis is handicapped by the fact that nu-
merous diseases to be differentiated from ADPKD
are relatively infrequent (
). e decisive fac-
tor is usually the size of kidneys and presence of
cysts in the liver.
In patients without family history, it is essen-
tial to differentiate from auto somal recessive poly-
cystic kidney disease. It is manifested by clinical-
ly advanced renal insufficiency present already in
childhood or early youth. e lack of typical fam-
ily history may hinder the diagnosis, therefore,
dubious cases should be evaluated by liver bio-
psy where fibrosis is present.
Cysts in the kidneys are found in 20% of pa-
tients with tuberous sclerosis complex. e dis-
ease is associated with characteristic skin and
neuro logical symptoms. e concomitance of
kidney cancer and polycystic kidney disease re-
quires to exclude von Hippel-Lindau disease. An-
other genetically determined disease is medul-
lary cystic kidney disease which most common-
ly occurs as juvenile nephronophtisis and is as-
sociated with CRF in childhood. Differentiation
from ADPKD may constitute a problem in case of
auto somal dominant inherited medullary cystic
with positive ADPKD family history (
)12
have been worked out.
Altogether, available data show that no family
history and a patient’s age are limitations of the
ADPKD diagnosis using imaging techniques. If a
family history is negative, the diagnosis is uncer-
tain until enlarged kidneys, the presence of nu-
merous cysts in the kidneys and cysts in the liv-
er have been detected.
A mutation of the polycystin 1
or 2 genes accounts for ADPKD. ose genes are
located on chromosome 16 and 4, respective-
ly. ere are ADPKD type 1 or 2, depending on a
mutated gene. Earlier papers suggested the exis-
tence of a rare ADPKD type 3, however, no muta-
tion responsible for that type of disease has not
been demonstrated to date. Currently, authors
much less frequently mention a potential occur-
rence of ADPKD type 3.
3
Hereditary background
of the disease makes its diagnosis based on ge-
netic tests theoretically possible, irrespective of
a patient’s age. In practice, genetic analysis is not
a standard procedure, being labor -consuming and
expensive. e tests are performed mainly on
young persons if US provides insufficient infor-
mation and if there are additional recommenda-
tions, e.g. a wish to be a kidney donor. e poly-
cystic kidney disease gene size and the number
of described mutations hamper genetic evalua-
tion of ADPKD.5,13,14
Diagnostic evaluation involves direct or indi-
rect detection of the mutations. e latter uses
e.g. DNA linkage analysis technique. e funda-
mental drawback of this method is a necessity
to test at least 4 ADPKD patients and numerous
healthy members of the same family. Direct de-
tection techniques of mutation used when only
a proband’s blood sample is available are free
of that limitation. en, the sensitivity in de-
tection of an individual mutation exceeds 60%.
ese tests, although expensive, are commercial-
ly available.5,13,14
To date, >200 mutations of both genes al-
together have been described. eir full list is
available at http://archive.uwcm.ac.uk/uwcm/
mg/hgmd/search.html.
Diseases associated with the presence of renal cysts which might
potentially require differentiation from ADPKD
Autosomal recessive polycystic kidney disease
Tuberous sclerosis complex
Von Hippel-Lindau disease
Medullary cystic kidney disease
Oral-facial-digital syndrome
Polycystic dysplastic kidney disease
Medullary sponge kidney
Acquired cystic kidney disease
POLSKIE ARCHIWUM MEDYCYNY WEWNĘTRZNEJ 2008; 118 (12)
correlates with cyst volume and is easier to esti-
mate.
23
An error in renal volume estimated using
MR is <5%.
21
Both total renal volume and the vol-
ume of cysts and parenchyma could be precise-
ly estimated by CT.
20
e consortium of Radio-
logic Imaging Studies to Assess the Progression of
Polycystic Kidney Disease demonstrated that re-
nal volume exceeding 1500 ml is associated with
a decrease in GFR and rapid progression of the
disease.3,22-24 High total renal volume in imaging
tests is also a risk factor for hypertension.25 Re-
nal volume estimation does not require the use
of contrast medium.
It is known that in ADPKD patients the vol-
ume of a single kidney increases by approximate-
ly 50–70 ml per year. However, there is a large
difference among patients with regard to cyst
growth speed.23,25 In children, there is possibili-
ty to roughly estimate renal volume by means of
ultrasonography.26
To summarize, assessment of total renal vol-
ume in sensitive imaging tests (mainly MR) per-
formed according to approved and reliable stan-
dards is the best method to evaluate disease pro-
gression, particularly in patients without renal
insufficiency. is test is currently a standard
measure in the assessment of ADPKD progres-
sion in clinical trials (Tempo, HALT-PKD).
22
A
role of US in the assessment of the disease pro-
gression is limited.
Renal flow para meters, resis-
tive index and pulsation index, assessed in Dop-
pler ultrasound test correlate with renal impair-
ment, the risk of hypertension development and
its magnitude.27-29 MR may also be used for re-
nal flow assessment.
30
ese tests are of low util-
ity in clinical practice and are used mainly in sci-
entific research.
e assessment of
ADPKD progression based on markers of kidney
damage also seems to be of low significance. It is
known that albuminuria, present also in subjects
without hypertension, increases with the disease
progression.
31
Novel markers of kidney injury, e.g.
NGAL (neutrophil gelatinase-associated lipoc-
alin), L-FABP (liver-fatty acid binding protein),
β-N-acetylhexosaminidase (isoenzyme Hex B)
have been described.32-34 eir results, however,
could not modify the diagnostic procedures and
treatment of ADPKD patients in any way.
Although the course
of ADPKD depends on numerous factors, stud-
ies on larger groups of patients have shown that
prognosis is worse in patients with ADPKD type
1, hypertension diagnosed prior to the age of 35,
essential hypertension in a family history, mas-
sive hematuria prior to the age of 30, liver cysts
in females with the disease diagnosed prior to the
age of 30, and males (mainly ADPKD type 1).
2,8,34
It is unimportant whether the disease is inherit-
ed from one’s mother or father.2
kidney disease, in which the first symptoms are
present usually in adults in their thirties. A rare
X-linked disease is oral-facial-digital syndrome
with characteristic lesions in the oral cavity, face
dysmorphia, developmental hand and finger dis-
orders and mental retardation.
Multicystic renal dysplasia in adults is usu-
ally a unilateral disorder. It is distinguished by
frequent presence of calcification in the cyst
walls and abnormal structure of parenchyma
between the cysts visible on US. Another con-
genital, but not genetically determined dis-
ease is medullary sponge kidney in the course
of which lithiasis and nephrocalcinosis is com-
monly observed.1,5,13,18,19
Differentiation from acquired cystic kidney dis-
ease usually is easy, given negative family histo-
ry, a small size of kidneys and lack of cysts locat-
ed outside the kidneys. Acquired cysts are found
in a large number of patients – approximately
50%.16,17
Half of ADP-
KD type 1 patients require renal replacement ther-
apy at the age of 54, and half of ADPKD type 2 pa-
tients at the age of 73.
20
However, ADPKD is char-
acterized by high variability of the disease pro-
gression and definite CRF may even be detected in
a 2-year-old child.
21
In the light of available data,
proper assessment of the stage of the disease ad-
vancement and the disease progression is of cru-
cial importance in the diagnostic process.
From the tests carried
out among ADPKD patients, it is well known that
in case of CRF the disease progression is con-
stant, similar in most patients; glomerular filtra-
tion rate (GFR) decreases approximately 4–5 ml/
min/year.1 erefore, in CRF patients, the calcu-
lation of GFR should be a standard, preferably
according to Modification of Diet in Renal Dis-
ease formula. In patients without CRF, changes
in creatinine levels are very slow, hence the calcu-
lated GFR may be distinguished by their low dy-
namics. An average decrease in GFR in patients
without hypertension and CRF ranges from 2 to
3 ml/min/year.22
e number and volume of cysts
enable ADPKD diagnosis but they also show the
disease advancement. Using those indications is
difficult, labor-intensive and burdened with low
reproducibility of results. What weighs against
that solution is the fact that only part of the cyst
is visible in imaging tests. Cysts are formed in
5% of nephrones, thus a measurement of even
several dozens of cysts will be the measurement
of only a small portion of all lesions. It is obvi-
ous from histo logical examinations that cysts
are found also in renal parenchyma unaltered
in imaging tests. According to the recent data,
the most objective test to assess the disease pro-
gression and to monitor it is MR-based estima-
tion of total renal volume. Renal volume closely
Current diagnostic evaluation of auto somal dominant polycystic kidney disease
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course – case report]. Pol Arch Med Wewn. 2005; 114: 887-890. Polish.
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acting somatostatin treatment in auto somal-dominant polycystic kidney
disease. Kidney Int. 2005; 68: 206-216.
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Obviously, the course of the disease is deter-
mined predominantly by its type. Patients with
ADPKD type 1 have worse prognoses because com-
plications and CRF develop earlier.2,36 Perhaps in
the future, available, inexpensive and quick ge-
netic tests will allow routine identification of pa-
tients with two types of ADPKD having slightly
different prognosis.
To sum up, only GFR and total renal volume
possess sufficient accuracy and reproducibility to
be used for assessment of the disease progression
rate. While GFR value is a standard measure in
clinical practice, estimation of total renal volume
becomes standard in clinical trials.
ere exists a range
of complications in ADPKD associated with uri-
nary tract, including infections, bleeding, lithia-
sis, tubulopathies. Early diagnosis of hyperten-
sion is most important in terms of the preven-
tion of cardiovascular complications. In order to
dispel doubts, a 24-hour blood pressure measure-
ment should be performed. Currently, it is not
clear what values of blood pressure entitle to an-
tihypertensive treatment in ADPKD patients. An
answer to this question may probably be given by
the ongoing HALT-PKD study.22 Until the doubts
have been removed, the commonly approved cri-
teria applied in hypertension therapy should be
followed. It is well known that aneurisms repre-
sent one of serious cardiovascular complications
of ADPKD. ey may be present in virtually all
arteries; however, the greatest concern is asso-
ciated with those located intracranially. Imaging
examination of the brain vessels should be per-
formed in a person with neuro logical symptoms,
brain aneurisms or subarachnoid hemo rrhage in
family history, and in case of increased anxiety of
the patient.1 e most common extrarenal com-
plication of ADPKD is liver cysts found in sensi-
tive tests almost in all elderly patients.
In diagnostic evaluation of
ADPKD, precise family history and US are most
important. In each person diagnosed with the dis-
ease it is essential to monitor the presence of uri-
nary tract and cardiovascular complications. An
early diagnosis of hypertension is of great signifi-
cance. e disease progression is assessed mainly
by repeated measurements of GFR. Scientific re-
search uses another, more sensitive index, i.e. the
estimation of total renal volume. Progress in AD-
PKD treatment will certainly serve as a stimulus
for establishing reliable and inexpensive meth-
ods for early detection of the disease which will
enable its treatment before hypertension and
renal insufficiency have developed. Presumably,
on the basis of current clinical studies, methods
that evaluate the disease progression based on
the measurements of levels of individual mark-
ers of kidney damage in the patients’ urine and
blood will be developed.
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2214-2221.
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