Idiopathic steroid-resistant nephrotic syndrome

What it is

From: Orphanet

A rare, idiopathic nephrotic syndrome characterized by the triad of proteinuria, hypoalbuminemia and edema in patients who do not respond, or only partially respond, to the initial trial of corticosteroids. Patients may be multidrug resistant or may be sensitive to second-line immunosuppressive therapy.

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.

Abnormal circulating lipid concentration · Very frequent (99-80%)

Any deviation from the normal concentration of lipid in the blood circulation.

Abnormal podocyte morphology · Very frequent (99-80%)

Any structural anomaly of the podocyte, which is a highly specialized cell of the Bowman capsule and which forms multiple interdigitating foot processes. Podocytes are interconnected by slit diaphragms and cover the exterior basement membrane surface of the glomerular capillary.

Hypoalbuminemia · Very frequent (99-80%)

The concentration of albumin in the blood circulation is below the lower limit of normal.

Proteinuria · Very frequent (99-80%)

Increased levels of protein in the urine.

Edema · Frequent (79-30%)

An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.

Focal segmental glomerulosclerosis · Frequent (79-30%)

Segmental accumulation of scar tissue in individual (but not all) glomeruli.

Hypercholesterolemia · Frequent (79-30%)

An increased concentration of cholesterol in the blood.

Hypercoagulability · Frequent (79-30%)

An abnormality of coagulation associated with an increased risk of thrombosis.

Hypertriglyceridemia · Frequent (79-30%)

The concentration of triglyceride in the blood circulation is above the upper limit of normal.

Minimal change glomerulonephritis · Frequent (79-30%)

The presence of minimal changes visible by light microscopy but flattened and fused podocyte foot processes on electron microscopy in a person with nephrotic range proteinuria.

Abdominal pain · Occasional (29-5%)

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

Abnormal urine output · Occasional (29-5%)

An abnormal amount of urine production.

Acute kidney injury · Occasional (29-5%)

Sudden loss of renal function, as manifested by decreased urine production, and a rise in serum creatinine or blood urea nitrogen concentration (azotemia).

Fever · Occasional (29-5%)

Body temperature elevated above the normal range.

Other findings in the same source

From: Orphanet

Additional reported features include Foamy urine (Occasional (29-5%)); Headache (Occasional (29-5%)); Periorbital edema (Occasional (29-5%)); Respiratory tract infection (Occasional (29-5%)); Stage 5 chronic kidney disease (Occasional (29-5%)); Diffuse mesangial sclerosis (Very rare (<4-1%)); Growth delay (Very rare (<4-1%)); Peritonitis (Very rare (<4-1%)); Pulmonary embolism (Very rare (<4-1%)); Venous thrombosis (Very rare (<4-1%)). 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

Not applicable

Frequency and the population described

From: Orphanet

Annual incidence: 1-9 / 1 000 000; Worldwide; Value and class. Point prevalence: Unknown; Worldwide; Class only.

Which doctor should you see?

The suggested department for discussing Idiopathic steroid-resistant nephrotic syndrome is Nephrology, with a nephrologist as the relevant type of clinician. General physician / Family Medicine; paediatrician for children. Referral depends on symptoms.

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

Where the source describes treatments, these are an overview of possible care, not a prescription for an individual. Ask which option applies to the confirmed diagnosis, what benefit is expected, what adverse effects to watch for and how progress will be assessed. Availability, approvals and local practice can differ from the country described in the source.

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.