A 4-year-old female patient presented with a six-day history of fever (39oC) and abdominal pain.
Personal history: newborn of pregnancy 1, controlled pregnancy, normal delivery, term (40 weeks), weight adjusted60 kg).
At 2 years she was diagnosed with myopia, so she is under follow-up by endoscopy.
At 3 years and 5 months, the patient presented an infection of the urinary tract by Escherichia coli, received outpatient treatment, but did not perform subsequent controls of this pathology.
Polyuria and polydipsia from an early age
Family history: paternal hypoacusis grandmother, paterno with renal lithiasis, father with microhematuria.
Upon admission, the patient was eutrophic (weight: 17,400 kg, height: 104 cm), in good general condition, febrile, normotensive.
Urocultive urine, positive for Escherichia coli, and renal ultrasound showed images compatible with nephrocalcinosis.
An abdominal X-ray showed renal calcifications.
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Laboratory tests revealed renal failure (creatinine clearance 50 ml/min/mix), hypercalciuria (13 mg/kg/d), hypomagnesaemia, acidosis, hypermagnesuria, anaemia
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Cardiac and otorhinolaryngological evaluation was normal.
Chorioretinitis was diagnosed as macular scarring, myopic choriopathy.
Diagnosis is made by the presence of hypercalciuria, nephrocalcinosis, hypomagnesemia, hypermagnesuria and renal failure, associated with ocular pathology and compatible personal and family history.
He was treated for urinary infection.
Potassium citrate, amiloride-hydrochlorothiazide 25 mg/day, magnesium pidolate 1.5 g/day, folic acid 5 mg/day, ferrous sulfate 3 mg/kg/day, controlled protein intake was indicated.
During her evolution she presented a new urinary infection to E. coli, a normal voiding cystourethrography was performed, and antibiotic prophylaxis with nitrofurine was started.
Hydrochlorothiazide was discontinued after two months of treatment due to sudden increase in urea and creatinine, with subsequent improvement and maintenance of calciuria values within normal limits.
The rest of the medication is maintained to date.
