Resumo

PLAZA-RAMOS, P.; TABUENCA-DEL BARRIO, L.; ZUBICOA-ENERIZ, A.  e  GOLDARACENA-TANCO, B.. Michaelis-Manz syndrome. A case report. Anales Sis San Navarra [online]. 2018, vol.41, n.3, pp.393-396.  Epub 22-Maio-2019. ISSN 1137-6627.  https://dx.doi.org/10.23938/assn.0377.

Michaelis-Manz syndrome is an autosomal recessive hereditary tubulopathy associated with mutations in the tight-junction proteins claudin-16 and claudin-19, which are present in the distal convoluted tubule and the loop of Henle in the kidney. Claudin-19 is also expressed in the retinal pigmentary epithelium. The clinical picture causes hypomagnesemia, hypercalciuria and nephrocalcinosis that can lead to renal failure, which is the condition that marks the prognosis of the disease. Ophthalmologically patients can present macular coloboma, myopic staphyloma and nystagmus. We present the case report of an 18-year-old man suffering from hereditary hypomagnesemia, hypercalciuria and nephrocalcinosis, or Michaelis-Manz syndrome, with macular coloboma and stable visual acuities.

Palavras-chave : Hypomagnesemia; Hypercalciuria; Nephrocalcinosis; Macular coloboma.

        · resumo em Espanhol     · texto em Espanhol     · Espanhol ( pdf )