Last updated: June 19, 2026Bookmark
Alport syndrome is a genetic X-linked defect in type IV collagen that is characterised by glomerulonephritis, eye abnormalities, and sensorineural hearing loss.
The average age of renal failure is between 30 and 40 years. Female carriers can also exhibit the phenotype, with renal failure occuring in 30% by 60 years of age.
- Signs and symptoms
- Haematuria
- Proteinuria
- Renal insufficiency
- High-tone sensorineural hearing loss
- Anterior lenticonus: bulging of the lens on slit-lamp examination
Reference Intervals
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Biochemistry
| ACTH | P: <80 ng/L |
| ALT | P: 5–35 U/L |
| Albumin | P: 35–50 g/L |
| Aldosterone | P: 100–500 pmol/L |
| Alk. phosphatase | P: 30–130 U/L |
| α-Amylase | P: 0–180 IU/dL |
| α-Fetoprotein | S: <10 kU/L |
| Angiotensin II | P: 5–35 pmol/L |
| ADH | P: 0.9–4.6 pmol/L |
| AST | P: 5–35 U/L |
| Bicarbonate | P: 24–30 mmol/L |
| Bilirubin | P: 3–17 μmol/L |
| BNP | P: <50 ng/L |
| CRP | P: <10 mg/L |
| Calcitonin | P: <0.1 mcg/L |
| Calcium (ionized) | P: 1.0–1.25 mmol/L |
| Calcium (total) | P: 2.12–2.60 mmol/L |
| Chloride | P: 95–105 mmol/L |
| Cholesterol | P: <5.0 mmol/L |
| VLDL | P: 0.128–0.645 mmol/L |
| LDL | P: <2.0 mmol/L |
| HDL | P: 0.9–1.93 mmol/L |
| Cortisol AM | P: 450–700 nmol/L |
| Cortisol Midnight | P: 80–280 nmol/L |
| CK ♂ | P: 25–195 U/L |
| CK ♀ | P: 25–170 U/L |
| Creatinine | P: 70–100 μmol/L |
| Ferritin | P: 12–200 mcg/L |
| Folate | S: 2.1 mcg/L |
| FSH | P: 2–8 U/L ♂; >25 menopause |
| GGT ♂ | P: 11–51 U/L |
| GGT ♀ | P: 7–33 U/L |
| Glucose (fasting) | P: 3.5–5.5 mmol/L |
| Growth hormone | P: <20 mu/L |
| HbA1C (DCCT) | B: 4–6% |
| HbA1C (IFCC) | B: 20–42 mmol/mol |
| Iron ♂ | S: 14–31 μmol/L |
| Iron ♀ | S: 11–30 μmol/L |
| Lactate (venous) | P: 0.6–2.4 mmol/L |
| Lactate (arterial) | P: 0.6–1.8 mmol/L |
| LDH | P: 70–250 U/L |
| LH | P: 3–16 U/L |
| Magnesium | P: 0.75–1.05 mmol/L |
| Osmolality | P: 278–305 mosmol/kg |
| PTH | P: 0.8–8.5 pmol/L |
| Potassium | P: 3.5–5.3 mmol/L |
| Prolactin ♂ | P: <450 U/L |
| Prolactin ♀ | P: <600 U/L |
| PSA | P: 0–4 mcg/mL |
| Protein (total) | P: 60–80 g/L |
| Red cell folate | B: 0.36–1.44 μmol/L |
| Renin (erect) | P: 2.8–4.5 pmol/mL/h |
| Renin (recumbent) | P: 1.1–2.7 pmol/mL/h |
| Sodium | P: 135–145 mmol/L |
| TBG | P: 7–17 mg/L |
| TSH | P: 0.5–4.2 mU/L |
| T4 | P: 70–140 nmol/L |
| Free T4 | P: 9–22 pmol/L |
| TIBC | S: 54–75 μmol/L |
| Triglycerides | P: 0.50–2.3 mmol/L |
| T3 | P: 1.2–3.0 nmol/L |
| Troponin T | P: <0.1 mcg/L |
| Urate ♂ | P: 210–480 μmol/L |
| Urate ♀ | P: 150–390 μmol/L |
| Urea | P: 2.5–6.7 mmol/L |
| Vitamin B12 | S: 0.13–0.68 nmol/L |
| Vitamin D | S: 50 nmol/L |
Arterial Blood Gases
| pH | 7.35–7.45 |
| PaCO₂ | 4.7–6.0 kPa |
| PaO₂ | >10.6 kPa |
| Base excess | ±2 mmol/L |
Urine
| Cortisol (free) | <280 nmol/24h |
| Hydroxyindole acetic acid | 16–73 μmol/24h |
| Hydroxymethylmandelic acid | 16–48 μmol/24h |
| Metanephrines | 0.03–0.69 μmol/mmol cr. |
| Osmolality | 350–1000 mosmol/kg |
| 17-Oxogenic steroids ♂ | 28–30 μmol/24h |
| 17-Oxogenic steroids ♀ | 21–66 μmol/24h |
| 17-Oxosteroids ♂ | 17–76 μmol/24h |
| 17-Oxosteroids ♀ | 14–59 μmol/24h |
| Phosphate (inorganic) | 15–50 mmol/24h |
| Potassium | 14–120 mmol/24h |
| Protein | <150 mg/24h |
| Protein/creatinine ratio | <3 mg/mmol |
| Sodium | 100–250 mmol/24h |
Haematology
| WCC | 4.0–11.0 ×10⁹/L |
| RBC ♂ | 4.5–6.5 ×10¹²/L |
| RBC ♀ | 3.9–5.6 ×10¹²/L |
| Hb ♂ | 130–180 g/L |
| Hb ♀ | 115–160 g/L |
| PCV ♂ | 0.4–0.54 L/L |
| PCV ♀ | 0.37–0.47 L/L |
| MCV | 76–96 fL |
| MCH | 27–32 pg |
| MCHC | 300–360 g/L |
| RDW | 11.6–14.6% |
| Neutrophils | 2.0–7.5 ×10⁹/L (40–75%) |
| Lymphocytes | 1.0–4.5 ×10⁹/L (20–45%) |
| Eosinophils | 0.04–0.44 ×10⁹/L (1–6%) |
| Basophils | 0–0.10 ×10⁹/L (0–1%) |
| Monocytes | 0.2–0.8 ×10⁹/L (2–10%) |
| Platelets | 150–400 ×10⁹/L |
| Reticulocytes | 0.8–2.0% / 25–100 ×10⁹/L |
| Prothrombin time | 10–14 s |
| APTT | 35–45 s |
Paediatric
| Pulse Rate (bpm) | |
|---|---|
| Neonate | 140–160 |
| Infant <1yr | 120–140 |
| 1–5 years | 110–130 |
| 5–12 years | 80–120 |
| >12 years | 70–100 |
| Respiratory Rate (tachypnoea) | |
| 0–2 months | ≥60/min |
| 2–12 months | ≥50/min |
| 1–5 years | ≥40/min |
| >5 years | ≥30/min |
| Blood Pressure (mmHg) | |
| Term | 65/45 |
| 1 year | 75/50 |
| 4 years | 85/60 |
| 8 years | 95/65 |
| 10 years | 100/70 |
| Weight Formulas | |
| 3–12 months | (a + 9)/2 kg |
| 1–6 years | 2a + 8 kg |
| >6 years | (7a − 5)/2 kg |
| Haemoglobin (g/dL) | |
| Term newborn | 13–20 |
| 1 month | 11–18 |
| 2 months | 10–15 |
| 1–2 years | 10–13 |
| >2 years | 11–14 |
| MUAC (6 months–5 years) | |
| Obese | >17.5 cm |
| Normal | 13.5–17.4 cm |
| At risk | 12.5–13.4 cm |
| Moderate malnutrition | 11.5–12.4 cm |
| Severe malnutrition | <11.5 cm |
| Developmental Milestones | |
| Social smile | 1.5 months |
| Head control | 4 months |
| Sits unsupported | 7 months |
| Crawls | 10 months |
| Stands unsupported | 10–12 months |
| Walks | 12–13 months |
| Talks | 18 months |
| CSF WBC (/mm³) | |
| Term newborn | 0–25 |
| >2 weeks | 0–5 |
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