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2015, Number 1

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Rev Mex Pediatr 2015; 82 (1)

Newborn with familial hypomagnesemia, hypercalciuria and nephrocalcinosis or Michelis-Castrillo syndrome

Gordillo-de Anda R

Language: Spanish
References: 38
Page: 24-31
PDF size: 335.79 Kb.


ABSTRACT

Renal tubulopathies are hereditary diseases due to mutations on genes that codify transport proteins for specific elements, resulting in a variety of alterations. Michelis-Castrillo syndrome is a rare renal tubulopathie where alterations in claudins 16 and 19, two tight junction proteins located in the thick ascending loop of Henle and involved in the transport of the dibasic ions calcium and magnesium resulting in hypercalciuria, hypermagnesuria with nephrocalcinosis and renal chronic insufficiency. We report an unborn baby girl in whom nephrocalcinosis was detected in an ultrasound performed to the gravid mother and due to the presence of placental calcification and placental insufficiency it was decided to interrupt the pregnancy. As newborn diagnosis and treatment were established, we report initial findings, differential diagnosis, established therapy and follow up for five years and review of the recent literature.


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