Nephrocalcinosis

Nephrocalcinosis in siblings--familial hypomagnesemia, hypercalciuria with nephrocalcinosis (FHHNC syndrome).

Familial Hypomagnesemia, Hypercalciuria with Nephrocalcinosis is a rare autosomal recessive inherited disease associated with renal failure. Two girls born of consanguineous parentage aged 16 and 17 presented to us with renal failure, nephrocalcinosis and bone deformities. On evaluation they were found to have hypomagnesemia, hypercalciuria, increased fractional excretion of magnesium, hypocitr...

Renal hypomagnesemia, hypercalciuria, nephrocalcinosis

Chronic hypokalaemia and nephrocalcinosis

Unravelling chronic hypokalaemia can be a clinical challenge in some patients. History and physical examination can be misleading or inaccurate. Diagnostic steps usually involve assessing urinary potassium excretion, transtubular potassium gradient (TTKG) and concomitant acid–base disturbances. In those patients with low urinary potassium excretion, a gastrointestinal cause for the hypokalaemia...

Nephrocalcinosis in preterm babies.

OBJECTIVES To determine prospectively the incidence and cause of nephrocalcinosis in preterm infants. STUDY DESIGN Inborn babies of gestation less than 32 weeks or birth weight less than 1500 g were eligible to be entered into a prospective observational study. Two renal ultrasound scans were performed, the first at 1 month postnatal age and the second at term or discharge. Data were collecte...

Diphosphonate therapy in nephrocalcinosis.

4 patients with nephrocalcinosis were treated with disodium ethane 1-hydroxy-1, 1-diphosphonate (EHDP) for a period of 13 months. No clinical side-effects were observed and growth proceeded normally. Radiographic changes of osteitis fibrosa cystica developed in 1 child and bone biopsy in 2 children showed defective osteoid mineralisation. It is suggested that EHDP prevented further crystal depo...