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Polycystic Kidney Disease Types Causes Diagnosis Treatment And Management

Polycystic Kidney Disease Types Causes Diagnosis Treatment And Management

Posted By HealthcareOnTime Team Posted on 2022-01-31

Small pair of organs, just about the size of a human fist or an average computer mouse, kidneys are organs which are the natural filters within human body. They solely play a crucial role in controlling the composition of blood and elimination of wastes and toxins via urine while maintaining the blood acid levels along with water and electrolyte homeostasis. A single kidney is at least needed to live, for they filter our blood roughly 400 times a day through their tiny filtering units, nephrons. Apart from these, the unsung heroes of our bodies multitask by aiding in Red blood cells formation by releasing erythropoietin, maintain bone health by activating vitamin D as well as control blood pressure by releasing renin which signals the adrenal glands, thereby regulating vascular tension, fluid volumes and sodium levels.

Polycystic Kidney Disease Types Causes Diagnosis Treatment And Management

Kidneys since are involved in the crucial aspect of detoxification, become susceptible to multiple adverse conditions, that affect their overall functioning. Imagine these vital organs getting abnormally enlarged due to development of fluid-filled cysts numbering in thousands, compressing the healthy tissue and hampering kidney function eventually causing renal failure! Such is the havoc unleashed by an inherited kidney disorder belonging to the family of cystic kidney diseases; Polycystic kidney disease (PKD). A medical condition characterised by growth of multiple cysts which are abnormal fluid-filled sacs with an unknown complex protein constituency of cyst fluid, arising out of the tubular portion of nephrons as well as the renal collecting system. A very conservative estimate states about, 650,000 to 2,200,000 individuals develop end-stage renal diseases in India annually, while 2.4% cases of the end stage disease is solely contributed by Polycystic kidney disease.

Types of Polycystic kidney disease and Causes
The major causal factor of Polycystic kidney disease is inherited gene defects, and rarely occurs due to spontaneous genetic alterations. This is mainly categorised into two main types:

Autosomal Dominant PKD (ADPKD): Accounting for almost 90% of the Polycystic kidney disease cases (affects 1 in 800), it is also termed the 'adult PKD. This condition is characterised as a progressive and a multi-systemic disorder resulting in bilateral renal enlargement due to the development of fluidfilled cysts on the kidney and later in other organs like liver, spleen, pancreas, etc. Mutations in a set of genes PKDI (16p13.3) and PKD2 (4q21-23), encoding for the two integral membrane proteins localised in the renal cilia: polycystin-1 and polycystin-2, respectively, are documented to be responsible for development of ADPKD.

ADPKD caused due to mutation in either of the genes causes similar clinical manifestation, although patients harbou ring mutations in Polycystic kidney disease/ are affected by kidney failure and other clinical symptoms quite early.

Signs and symptoms: It is usually diagnosed in the fourth decade of life (30s-40s) until the cysts are half an inch or larger i.e. first growing out of the nephrons, later separating out upon enlargement. Depending on its severity, initially ADPKD affected complain of hypertension, temporary or persistent pain in the back and sides, ribs and hips, abdominal pain, headaches, etc., and hematuria (presence of blood in urine).

Future Complications: Infiltration of functional parenchyma with monocytes and fibroblasts results in renal fibrosis due to secondary and tertiary changes induced by the expanding fluid-filled cysts ultimately causing renal failure. Few other conditions like infection in the cyst, urinary tract infections (UTIS), development of Kidney stones, cerebral aneurysms, etc. are observed in ADPKD patients, which worsen their condition, and the existing damage.

Autosomal Recessive PKD (ARPKD): This is a rare genetic disorder occurring in 1 in 6000 to 1 in 40,000 live births, often termed as 'infantile PKD', appears in the early months of life, afflicting neonates or even fetuses in the womb. Since it is an autosomal recessive disorder, there are 25% chances of inheritance in case both the parents carry a copy of the mutated gene.

ARPKD is a combination of renal cystic disease and congenital hepatic fibrosis. Epithelial hyperplasia along the collecting ducts and fluid secretion results in ductal ectasia, thereby causing renal dysfunction.

Clinical presentation with the age of onset of ARPKD is variable and is governed by differential expression of mutations in PHKD1 along with a role of modifier genes and environmental factors, and is further classified as:
- Perinatal ARPKD (Present at birth)
- Neonatal ARPKD (Within the first month of life)
- Infantile ARPKD (3-6 months old)
- Juvenile ARPKD(>1 year old)

Signs and symptoms
- Enlarged kidney of fetus or an infant upon ultrasound
- Reduced amniotic fluid surrounding the baby in uterus
- Potter's syndrome (deformity in face, ears and limbs due to lack of amniotic fluid) - Enlargement of child's abdomen due to enlarged kidneys, liver or spleen
- Growth failure: Affected kids are smaller than average size
- Heart defects
- Underdeveloped lungs
- Frequent urination

Future Complications: In severe cases of ARPKD, babies die at birth or within the first few weeks of life due to pulmonary insufficiency. The ones which survive till adolescence suffer from high blood pressure leading to cardiovascular problems, UTIs, low blood cell counts, varicose veins, hemorrhoids, liver scarring, etc. and eventually develop kidney failure before reaching adulthood.

Acquired Cystic Kidney Disease (ACKD): As the name suggests is not inherited but develops in patients affected by other pre-existing adverse kidney conditions. It usually occurs at a later stage in life especially in individuals under dialysis or those affected by kidney failure.

Doctors perform differential diagnoses to eliminate other possible causes like ACKD, medullary cystic disease, etc. Hypertension and rise in diastolic blood pressure are few of the initial manifestations of ADPKD along with abdominal tenderness over the liver and heart murmurs, to name a few. A doctor analyses for these existing symptoms along with recording prior medical history of the patient and the family. In case of suspected ADPKD, the following kidney studies are recommended to be performed:

Kidney Function Tests:
The glomerular filtration rate (eGFR) test is the most recommended as it is considered to be the best to measure rate of kidney function as well as assess stage of kidney disease. It measures the rate at which kidneys filter blood and is calculated using a mathematical formula involving age, gender, etc. to the patients creatinine levels. Values of less than 60mL/min/1.73m" indicate a diseased kidney. A simple urine test is also done to check for early signs of Polycystic kidney disease, viz. presence of blood or protein (albumin).

Abdominal ultrasound, one of the initial tests performed for suspected ADPKD, provides accurate images of cysts in the kidneys (1-1.5 cm) as well as the extrarenal features of ADPKD like pancreatic and hepatic cysts, etc. in adults. In case of unborn fetuses, it is recommended when enlarged and echogenic kidneys are highlighted during routine obstetric sonogram (suspected ARPKD). Ultrasound scans can also evaluate abdominal masses or renal insufficiency in newborns and portal hypertension in an older child, whereas doppler ultrasonography evaluates blood flow.

Computed Tomography (CT) Scan:
A sensitive platform, CT scan utilises thin X-ray beams that can detect cysts as small as 0.5 cm and produce precise images of kidney cysts as fairly well-defined, round or oval masses along with renal calculi and acute or spontaneous hemorrhage into a cyst in ADPKD patients. ARPKD affected undergo CT scan which effectively demonstrates nephromegaly, hepatic duct dilation, varices and splenomegaly. One should however take into consideration nephrotoxicity of intravenous CT contrast material in patients with renal failure.

Magnetic Resonance Imaging (MRI) Scan:
This imaging technique is recommended in patients especially if they have an allergy for iodinated contrast media and those affected by renal failure. This can distinguish renal cell carcinoma from simple cysts and aids in monitoring cyst growth as well, to asses disease prognosis in adults. Fetal MRI scans characterise the findings of ARPKD in utero highlighting nephromegaly with reniform-shaped kidneys along with other features like fluid-filled, ectatic collecting ducts.

Genetic testing:
This is not routinely performed but is recommended in individuals with suspected ADPKD with a prior family history of the same. Testing for genetic mutations in PKD1 or PKD2 may be done using the blood or saliva sample. However, considering the complexity of the test procedure, reporting may take up to a month. In case of a positive mutation, further analysis by a genetic counsellor is recommended.

Cerebral angiography to identify cerebral aneurysms and Intravenous pyelogram are other X-ray imaging modalities performed for monitoring Polycystic kidney disease prognosis.

Treatment and Management
There is no cure or prevention modality available for Polycystic kidney disease and hence treatment focuses on controlling symptoms like high blood pressure, UTIs, pain, etc. by medications and preventing future complications. Up to 50% of ADPKD patients undergo renal replacement therapy or kidney transplantation by 60 years of age whereas ARPKD affected may undergo peritoneal dialysis or combined liver and kidney transplantation depending on the age of onset. Surgical drainage of renal and hepatic cysts is also performed when conventional antibiotic therapy fails.

A PKD affected should undergo lifetime monitoring by an experienced dietitian and must adhere to the following strategies to mittigate the same .
- Abstain from alcohol and smoke, and adhere to a healthy lifestyle with diet rich in nutrients, protein, and fiber
- Follow a low-salt, low-fat and cholesterol, low sugar diet regimen
- Maintain a healthy body weight by performing daily moderate physical activity for at least 30 minutes
- Regular intake of medications as directed by the doctor .

Kidney health is often underrated and Polycystic kidney disease affected are chronic ill patients, who shouldn't be let to deal with the illness alone. Polycystic kidney disease risk is serious, if caught early; its progress can be impeded or stopped, only if one is proactive enough to heed to the symptoms manifested in the first few months of life or later.


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