| Journal of Medical Cases, ISSN 1923-4155 print, 1923-4163 online, Open Access |
| Article copyright, the authors; Journal compilation copyright, J Med Cases and Elmer Press Inc |
| Journal website https://jmc.elmerpub.com |
Case Report
Volume 17, Number 7, July 2026, pages 336-339
A Rare Genetic Association of an NPHP2 Mutation With Nephronophthisis in a Child With Bombay Blood Group
Table
| WBC: white blood cell count; Hb: hemoglobin; ALT: alanine aminotransferase; AST: aspartate aminotransferase; PT: prothrombin time; INR: international normalized ratio; PTT: partial thromboplastin time; BUN: blood urea nitrogen; LDH: lactate dehydrogenase; ESR: erythrocyte sedimentation rate; TSH: thyroid-stimulating hormone; T4: thyroxine; PTH: parathyroid hormone; Na: sodium; Cl: chloride; K: potassium; PO4: phosphate; Ca: calcium; Mg: magnesium; ABG: arterial blood gas; pCO2: partial pressure of carbon dioxide; HCO3−: bicarbonate; TIBC: total iron-binding capacity. |
| Complete blood count (CBC) |
| WBC: 9.8 × 103/mm3 (5–19 × 103/mm3) |
| Hb: 5.8 g/dL (11–13.5 g/dL) |
| Platelet count: 301,000/µL (150,000–450,000/µL) |
| Liver function/coagulation |
| ALT: 86 U/L (30–45 U/L) |
| AST: 69 U/L (20–60 U/L) |
| PT: 12 s (11–13.5 s) |
| INR: 1.0 (0.9–1.3) |
| PTT: 26 s (25–30 s) |
| Renal function |
| Serum creatinine: 2.5 → 2.9 mg/dL (0.3–0.5 mg/dL) |
| BUN: 37 → 43 mg/dL (5–18 mg/dL) |
| Vitamin B12: 700 pg/mL (160–950 pg/mL) |
| Folic acid: 7.5 ng/mL (5–21 ng/mL) |
| Vitamin D: 11 nmol/L (50–100 nmol/L) |
| Albumin: 3.8 g/dL (3.4–5.2 g/dL) |
| LDH: 244 U/L (160–370 U/L) |
| ESR: 70 mm/h (3–13 mm/h) |
| TSH: 2.3 µIU/mL (0.5–5.97 µIU/mL) |
| Free T4: 1.39 ng/dL (0.8–2.8 ng/dL) |
| PTH: 334 pg/mL (15–32 pg/mL) |
| Serum electrolytes |
| Na: 134 mmol/L (135–145 mmol/L) |
| Cl: 118 mmol/L (90–110 mmol/L) |
| K: 6.3 mmol/L (3.5–5 mmol/L) |
| PO4: 5.5 mg/dL (4–7 mg/dL) |
| Ca: 8.6 mg/dL (8.8–10.8 mg/dL) |
| Mg: 2.5 mg/dL (1.6–2.6 mg/dL) |
| ABG |
| pH: 7.29 |
| pCO2: 23 mm Hg |
| HCO3–: 14 mmol/L |
| Iron: 35 µg/dL (50–120 µg/dL) |
| Ferritin: 71 ng/mL (7–140 ng/mL) |
| TIBC: 350 µg/dL (235–451 µg/dL) |
| Transferrin saturation: 2.5% (22–39%) |
| Indirect Coombs test: positive |
| Direct Coombs test: negative |