ABSTRACT
El síndrome de Michaelis-Manz es una tubulopatia de herencia autosómica recesiva asociada a mutaciones en las proteínas claudina 16 y 19 que se encuentran en el túbulo contorneado distal y asa de Henle en el riñón. La claudina 19 también se encuentra en el epitelio pigmentario de la retina. Clínicamente, el cuadro provoca hipomagnesemia, hipercalciuria y nefrocalcinosis que puede dar lugar a insuficiencia renal. Oftalmológicamente presentan colobomas maculares, estafilomas por miopía magna y nistagmo. Presentamos el caso de un varón de 18 años afectado de hipomagnesemia familiar con hipercalciuria y nefrocalcinosis, o síndrome de Michaelis-Manz, asociado a un coloboma macular con una agudeza visual estable
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
Subject(s)
Humans , Male , Adolescent , Macular Degeneration/diagnostic imaging , Macular Degeneration/drug therapy , Coloboma/diagnostic imaging , Visual Acuity , Magnesium Deficiency/complications , Hypercalciuria/complications , Nephrocalcinosis/complications , Coloboma/therapy , Retina/diagnostic imaging , Retina/pathology , Tomography, Optical Coherence/methods , Diagnosis, DifferentialABSTRACT
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, hyper-calciuria 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 Mich-aelis-Manz syndrome, with macular coloboma and stable visual acuities. Keywords. Hypomagnesemia. Hypercalciuria. Nephrocalcinosis. Macular coloboma.
Subject(s)
Magnesium Deficiency , Nephrocalcinosis , Adolescent , Humans , Magnesium Deficiency/diagnosis , Magnesium Deficiency/therapy , Male , Nephrocalcinosis/diagnosis , Nephrocalcinosis/therapyABSTRACT
BACKGROUND: Epidemic keratoconjunctivitis is an acute, generally bilateral infection, that appears sporadically or in outbreaks from a source of common infection which may be a visit to the ophthalmologist or a swimming pool. Keratitis may evolve to form sub-epithelial injuries in the cornea lasting as much as several months. METHODS: Description of an outbreak of epidemic keratoconjunctivitis that took place in Navarra (Spain) between April and August 1996 and which affected at least 266 people. RESULTS: The epidemiological research highlights the existence of two ophthalmologist consulting rooms as the transmission mechanism for the infection in 46 of the 116 patients researched. The spread of the infection in the environment of the patients was recorded in 119 cases, 62 of which are considered secondary cases. The aetiological diagnosis of the outbreak was carried out 11 days after the start of the microbiological research, isolating adenovirus in conjunctival samples of 8 of the 19 patients researched. CONCLUSIONS: The preventive measures taken to control the outbreak and their effectiveness was highlighted by the gradual reduction in cases.
