Hipomagnesemia familiar con hipercalciuria y nefrocalcinosis y asociación con alteraciones ocularesFamilial hypomagnesemia with hypercalciuria and nephrocalcinosis. association with ocular abnormalities
Bibliografía (42)
- et al.
Decreased bicarbonate treshold and renal magnesium wasting in a sibship with distal renal tubular acidosis
Metabolism
(1972) - et al.
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis
Kidney Int
(1995) - et al.
The use of plasma creatinina concentration for estimating glomerular filtration rate in infants, children and adolescent
Pediatr Clin North Am
(1987) - et al.
Hypomagnesemie, hypercalciurie et nephrocalcinose de revelation precoce: Deux observations familiales
Arch Pédiatr
(1999) - et al.
Paracellin-1 is critical for magnesium and calcium reapsorption in the human thick ascending limb of Henle
Kidney Int
(2001) - et al.
A deletion of the paracellin-1 gene is responsable for renal tubular dysplasia in cattle
Genomics
(2000) - et al.
Recent advances in molecular genetics of hereditary magnesium-losing disorders
J Am Soc Nephrol
(2003) - et al.
Prevalence of hypomagnesemia in an unselected German population of 16000 individuals
Magnes Res
(2001) - et al.
Paracellin-1, a renal tight junction protein required for paracellular Mg2+ resorption
Science
(1999) - et al.
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis maps to chromosome 3q27 and is associated with mutations in the PCLN-1 gene
E J Hum Genet
(2000)
Hypomagnesemia-hypercalciuria-nephrocalcinosis: A report of nine cases and a review
Nephrol Dial Transplant
(2001)
Excreción urinaria de calcio en niños sanos Estudio colaborativo y multi-céntrico
Nefrología
(1988)
Excreción urinaria de calcio, magnesio, ácido úrico y ácido oxálico en niños normales
An Esp Pediatr
(1988)
Valores normales de uricurisuria en la infancia
Nefrología
(1988)
Hypomagnesemia due to renal disease of unknown etiology
Am J Med
(1975)
Renal magnesium wasting, incomplete tubular acidosis, hypercalciuria and nephrocalcinosis in siblings
Eur J Pediatr
(1978)
Idiopathic hypercalciuria with bilateral macular colobomata: A new variant of oculo-renal syndrome
Helv Pediat Acta
(1979)
The congenital “Magnesium-Losing Kidney” Report of two patients
Q J Med
(1981)
Infantile idiopathic hypercalciuria, high congenital myopia, and atypical macular coloboma: A new oculo-renal syndrome
J Ped Opthalmol Strabismus
(1982)
Nefrocalcinosis con hipomagnesemia
Nefrología
(1983)
Renal and phosphate wastage in a patient with hypercalciuria and nephrocalcinosis: Effect of oral phosphorus and magnesium supplements
Nephron
(1985)
Cited by (6)
Considerations about the molecular basis of some kidney tubule disorders in relation to inbreeding and population displacement
2020, NefrologiaCitation Excerpt :In fact, its definitive name comes from an article published by Manuel Praga et al. in 1995.17 Cesar Loris, a paediatric nephrologist at the Hospital Infantil Universitario Miguel Servet in Zaragoza, confirmed with his colleagues that in the Spanish patients, the rate of eye disorders was unusually high (81% vs. 24% in patients from other countries).18 The fact that, except for a very few, the Spanish patients with FHHNC did not have mutations in that gene was striking.19
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis
2021, Pediatric NephrologyFamilial hypomagnesemia-hypercalciuria (manz syndrome)
2006, Journal of the College of Physicians and Surgeons Pakistan
Copyright © 2004 Asociación Española de Pediatría. Published by Elsevier España, S.L. All rights reserved.