Kidney cystic diseases are hereditary and acquired type of disorder with presence of cysts in kidney tissue. 

Some cysts occur due to abnormal genes and some start during fetal development or kidney failure cases. 

Cysts in kidneys prevent water and waste filtration process in kidney. 

It is mainly divided in two types as: 

Inherited i.e., passed from parents to children 

Congenital i.e., present at birth 

Genetic cystic kidney diseases are: 

Polycystic kidney disease (PKD) 

Glomerulocystic kidney disease (GCKD) 

Medullary cystic kidney disease (MCKD)  

Nephronophthisis 

Non-genetic cystic kidney diseases are:  

Simple kidney cysts 

Acquired cystic kidney disease 

Multicystic dysplastic kidney 

Medullary sponge kidney 

Multicystic Dysplastic Kidney is a developmental disorder that occurs from abnormal differentiation of renal parenchyma. 

In acquired cystic kidney disease multiple cysts are developed in the kidneys to increase risk of renal cell carcinoma. 

MCDK condition shows an incidence of one per 1000 to 4000 live births. 

ADPKD affects 12.5 million worldwide. JNPHP and MCKD affect 10% to 20% of children and 1% to 5% of dialysis patients. 

Cysts are seen in 8% to 13% of pre-dialysis and 10-20% of post-3-year dialysis chronic renal failure patients. 

ADPKD occurs globally in all races. Acquired cystic renal disease is prevalent in white and African men. 

Inherited mutations in genes can be dominant or recessive with penetrance. 

JNPHP and medullary cystic disease have similar pathologic features but differ in genetic mutations and inheritance patterns. 

Syndrome includes renal cysts, angiomyolipoma, seizures, and dermatologic findings. 

Renal cysts form from tubule segments, detach when a few millimeters in size. Increased tubular epithelium proliferation causes development. 

Multicystic dysplastic kidney due to abnormal metanephros development. Genetics or issues with ampullary bud/blastema result in poor nephron induction. 

Primary cilia mutations in tubular epithelium relate to disease development. ARPKD results from PKHD1 mutations encodes fibrocystin. Gene controls renal and biliary structures, proliferation, secretion, and tubule development within the polycystin complex. 

Inheritance of tuberous sclerosis occurs in autosomal dominant manner with variable penetrance. 

Bilateral multicystic dysplastic kidney is incompatible with life. One-third patient die from renal failure, one-third from hypertensive nephropathy complications, and 6% to 10% from hemorrhage. 

Kidney disease worsens on dialysis but may improve after transplant, although tumors can grow more aggressively post-surgery. 

Persistent pain may indicate renal infection, tumor, or nephrolithiasis, while 10% to 20% of patients have calcium oxalate stones. 

Hemorrhagic or infected simple cysts may result from trauma, bleeding disorders, or varices in the cyst wall. 

Cystic diseases of the kidney affect individuals in the age group of neonates to adults.  

Abdominal Examination 

Skin Examination 

For Polycystic Kidney Disease: 

Asymptomatic until adulthood, also shows hypertension, hematuria 

For Medullary Cystic Kidney Disease: 

Polyuria, nocturia, and mild renal impairment 

For Nephronophthisis: 

Polyuria, polydipsia, and growth retardation 

For Acquired Cystic Kidney Disease: 

Hematuria, flank pain 

ADPKD patients need to drink 1 to 2 L water daily for decreased urine concentration ability. 

Facility with level IV neonatal intensive care unit recommended for infants with recessive polycystic kidney disease. 

Pulmonary insufficiency is treated with high frequency ventilation, while hypertension is treated with nitric oxide. 

Manage hypertension with limited use of salt and medication such as ACE inhibitors/ARBs. 

Salt supplement may improve renal function and slow down renal decline. 

Simple cysts in patients require antimicrobial and surgical treatment for infection. 

Identified targets for renal cystic disease therapy tested in clinical trials for modification. 

Urology

Patient should regularly maintain hydration level to reduce the risk of kidney stones. 

Follow regular exercise routine to improve overall kidney function and health. 

Start taking low-sodium diet to manage hypertension and avoid high-protein diet to reduce the workload on the kidneys. 

Proper education and awareness about kidney cystic disease should be provided and its related causes with management strategies. 

Appointments with a urologist and preventing recurrence of disorder is an ongoing life-long effort. 

Urology

Lisinopril: 

It prevents conversion of angiotensin I to angiotensin II, that decreases aldosterone secretion. 

Urology

Losartan:  

It blocks the vasoconstrictor and aldosterone-secretion effects of angiotensin II.  

Urology

Diltiazem: 

It inhibits calcium ions entry in voltage-sensitive areas of vascular smooth muscle. 

Urology

Gentamicin: 

It interferes with bacterial protein synthesis to bind with 30S and 50S ribosomal subunits. 

Urology

It inhibits DNA gyrase in susceptible organisms to promote breakage of double-stranded DNA. 

Urology

Hydrochlorothiazide: 

It inhibits reabsorption of sodium in distal tubules to increase excretion of sodium and water. 

Urology

Oxycodone and acetaminophen: 

It is a combination drug indicated in treatment of moderate-to-severe pain. 

Urology

Nephrectomy is performed to remove one or both kidneys in cases when other renal treatments are ineffective. 

In kidney transplantation procedure a donor kidney is replaced with failed kidney of recipient. 

Urology

In the initial diagnosis phase, evaluation of medical history and laboratory test to confirm diagnosis. 

Pharmacologic therapy is very effective in the treatment phase as it includes use of ACE inhibitors, calcium channel blocker, thiazide diuretic and surgical intervention. 

In supportive care and management phase, patients should receive required attention such as lifestyle modification and rehabilitation. 

The regular follow-up visits with urologist are schedule to check the improvement of patients along with treatment response.