Autosomal dominant polycystic kidney disease

What it is

From: Orphanet

A rare, genetic, renal tubular disease characterized by progressive outgrowths of fluid-filled cysts from the renal epithelium, which can manifest with hematuria, urinary tract infections, hypertension, and abdominal or flank pain. The slowly progressive loss of kidney function may evolve to end stage kidney disease (ESKD).

Reported clinical features and what the terms mean

The following findings are associated with this condition in Orphanet. They are not a checklist for diagnosing yourself, and they do not all occur in every affected person. Some are examination, imaging or laboratory findings that cannot be recognised at home.

The frequency labels describe how often a finding was reported among people with the condition in the source. They do not give the chance that a person with that symptom has the condition. Definitions below reproduce HPO terminology; they explain the term, not the likely severity in an individual.

Decreased glomerular filtration rate · Very frequent (99-80%)

An abnormal reduction in the volume of fluid filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time.

Elevated circulating creatinine concentration · Very frequent (99-80%)

An increased amount of creatinine in the blood.

Renal cyst · Very frequent (99-80%)

A fluid filled sac in the kidney.

Renal insufficiency · Very frequent (99-80%)

A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.

Hepatic cysts · Very frequent (99-80%)

Abnormal urinary electrolyte concentration · Frequent (79-30%)

An abnormality in the concentration of electrolytes in the urine.

Albuminuria · Frequent (79-30%)

Increased concentration of albumin in the urine.

Chronic kidney disease · Frequent (79-30%)

Functional anomaly of the kidney persisting for at least three months.

Flank pain · Frequent (79-30%)

An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the flank.

Hematuria · Frequent (79-30%)

The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine).

Hypertension · Frequent (79-30%)

The presence of chronic increased pressure in the systemic arterial system.

Stage 5 chronic kidney disease · Frequent (79-30%)

A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine.

Abnormal systemic arterial morphology · Occasional (29-5%)

An abnormality of the systemic arterial tree, which consists of the aorta and other systemic arteries.

Aortic root aneurysm · Occasional (29-5%)

An abnormal localized widening (dilatation) of the aortic root.

Other findings in the same source

From: Orphanet

Additional reported features include Arachnoid cyst (Occasional (29-5%)); Calcium oxalate nephrolithiasis (Occasional (29-5%)); Dilatation of the cerebral artery (Occasional (29-5%)); Enlarged kidney (Occasional (29-5%)); Mitral valve prolapse (Occasional (29-5%)); Pancreatic cysts (Occasional (29-5%)); Pyelonephritis (Occasional (29-5%)); Recurrent urinary tract infections (Occasional (29-5%)); Reduced sperm motility (Occasional (29-5%)); Uric acid nephrolithiasis (Occasional (29-5%)). This is a selected summary, not a complete description of the condition.

When it may begin

From: Orphanet

Adolescent; Adult; Childhood

Inheritance in the source

From: Orphanet

Autosomal dominant

Frequency and the population described

From: Orphanet

Point prevalence: 1-5 / 10 000; Europe; Value and class.

Understanding the inheritance label

From: MedlinePlus Genetics

An autosomal dominant pattern means that one altered copy of a relevant gene can be sufficient for the condition. Some affected people inherit the change; others have a new change without an affected parent. The precise finding, family history and condition determine what this means for relatives.

Which doctor should you see?

The suggested department for discussing Autosomal dominant polycystic kidney disease is Nephrology, with a nephrologist as the relevant type of clinician. General physician / Family Medicine; paediatrician for children. Referral depends on symptoms.

Additional services that may be relevant, depending on the findings, include: Clinical Genetics.

This is an editorial referral starting point. The appropriate clinic depends on the person’s age, symptoms, previous diagnosis and local services. The first clinician can decide whether another specialty or a team is needed; a department label does not confirm the diagnosis.

How to prepare for an assessment

Bring a short timeline of the main symptoms: when they first appeared, whether they are constant or episodic, what seems to change them, and how they affect daily activities. Include previous reports, discharge summaries, current medicines and supplements, allergies, and any relevant family history. A dated record is more useful than trying to match every feature in an online article.

Ask the clinician what is already established and what remains uncertain. If a test is suggested, ask what question it answers, what its limitations are and how the result would change the next step. The information here is not an instruction to arrange every possible test. In children, bring growth, developmental and school information if it is relevant to the concern.

• How is kidney function being assessed over time?
• Are any current medicines or supplements relevant to kidney safety?
• Is there an individual recommendation about fluids, diet or blood pressure?

Treatment discussions and follow-up

The material gathered for this draft does not provide a complete condition-specific treatment pathway for Autosomal dominant polycystic kidney disease. That gap does not mean that treatment is unavailable. A clinician needs to establish the diagnosis and review current guidance before recommending medicines, procedures, rehabilitation or other support.

Before leaving the appointment, clarify the next review date, who will communicate results, and whom to contact if the situation changes. Discuss difficulties with sleep, work, school, mobility, eating or emotional wellbeing when these are relevant. Practical support may require coordination between the treating clinician and other services.

The collected references do not establish a complete prevention or long-term outlook section for this entry. Missing information should not be interpreted as proof that prevention is impossible or that a particular outcome is inevitable. Ask what is known for the exact subtype, stage and personal circumstances, and which uncertainties remain.

When to seek emergency help

Severe breathing difficulty, collapse, new stroke-like symptoms, a seizure that is prolonged or repeated without recovery, uncontrolled major bleeding, or an immediate risk of self-harm require emergency help. In India, call 112 or reach the nearest emergency department. This is a general, non-exhaustive warning list; it is not a condition-specific triage tool.