title: [The diagnosis of familial hypomagnesemia with hypercalciuria and nephrocalcinosis in a girl with acute lymphoblastic leukemia--case report].
abstract: Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a rare autosomal recessive tubulopathy resulting from mutation in the gene encoding paracelin 1. The main symptoms of FHHNC include excessive urinary calcium and magnesium excretion, nephrocalcinosis, and chronic renal failure. We present 16-year old girl in whom symptoms of FHHNC were accidentally recognized during therapy of acute lymphoblastic leukemia. In our patient, some symptoms of FHHNC were initially taken for the adverse effects of cytostatic therapy that delayed an adequate diagnosis. To the best of our knowledge, this is the first report of FHHNC associated with acute lymphoblastic leukemia. However, in our opinion this association is accidental.
authors.affiliation: Akademia Medyczna w Lublinie, Klinika Nefrologii Dzieciecej. sikoraprzem@hotmail.com
authors.forename: Przemysław
authors.initials: P
authors.lastname: Sikora
authors.forename: Halina
authors.initials: H
authors.lastname: Borzecka
authors.forename: Barbara
authors.initials: B
authors.lastname: Kołłataj
authors.forename: Marek
authors.initials: M
authors.lastname: Majewski
authors.forename: Anna
authors.initials: A
authors.lastname: Wieczorkiewicz-Płaza
authors.forename: Małgorzata
authors.initials: M
authors.lastname: Zajaczkowska
mesh_terms: D000293:Adolescent; D005260:Female; D006801:Humans; D053565:Hypercalciuria / Q000150:complications; D007015:Hypophosphatemia, Familial / Q000150:complications / Q000175:diagnosis*; D009397:Nephrocalcinosis / Q000150:complications; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000150:complications*