Familial hypomagnesemia with hypercalciuria and nephrocalcinosis. Association with ocular abnormalities;Hipomagnesemia familiar con hipercalciuria y nefrocalcinosis y asociación con alteraciones oculares

Anales de Pediatria

Volumn 61, Issue 6, 2004, Pages 502-508

  Loris Pablo, C ^a   Martin De Vicente C ^a   Abio Albero, S ^a   Justa Roldan M ^a   Ferrer Novella, C ^a  

^a HOSPITAL UNIVERSITARIO MIGUEL SERVET   (Spain)

Author keywords

Chronic renal failure; Hypercalciuria; Hypomagnesemia; Macular coloboma; Nephrocalcinosis

Indexed keywords

CALCIUM; MAGNESIUM; PARACELLIN 1; PROTEIN; UNCLASSIFIED DRUG;

ADOLESCENT; ARTICLE; CHILD; CHRONIC KIDNEY FAILURE; CLINICAL ARTICLE; DISEASE ASSOCIATION; EYE DISEASE; FAMILIAL DISEASE; FEMALE; GENE; GENE MUTATION; GLOMERULUS FILTRATION RATE; HENLE LOOP; HUMAN; HYPERCALCIURIA; HYPOMAGNESEMIA; KIDNEY CALCIFICATION; KIDNEY FAILURE; KIDNEY TRANSPLANTATION; MALE; PCLN 1 GENE; POLYDIPSIA; POLYURIA; RETROSPECTIVE STUDY; SPAIN; STONE FORMATION; TUBULAR DYSFUNCTION; URINARY TRACT INFECTION;

EID: 12744279645     PISSN: 16954033     EISSN: None     Source Type: Journal    
DOI: 10.1157/13069183     Document Type: Article

References (42)

1. Konrad M, Weber S. Recent advances in molecular genetics of hereditary magnesium-losing disorders. J Am Soc Nephrol 2003;14:249-60.
2. Schimatscheck HF, Rempis R. Prevalence of hypomagnesemia in an unselected German population of 16000 individuals. Magnes Res 2001;14:283-91.
3. Michelis MF, Drsah AL, Linarelli LG, De Rubertis FR, Davis BB. Decreased bicarbonate treshold and renal magnesium wasting in a sibship with distal renal tubular acidosis. Metabolism 1972;21:905-20.
4. 2+ resorption. Science 1999;285:103-6.
5. Weber S, Hoffmann K, Jeck N, Saar K, Böswald M, Kuwertz-Bröking E, 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;8:212-422.
6. Praga M, Vara J, González-Parra E, Andrés A, Álamo C, Araque A, et al. Familial hypomagnesemia with hypercalciuria and nephrocalcinosis. Kidney Int 1995;47:1419-25.
7. Benigno V, Canonica CS, Bettinelli A, Von Vigier RO, Truttmann AC, et al. Hypomagnesemia-hypercalciuria-nephrocalcinosis: A report of nine cases and a review. Nephrol Dial Transplant 2001;15:605-10.
8. Ubalde E, García de Jalón A, Abad A, Loris C. Excreción urinaria de calcio en niños sanos. Estudio colaborativo y multicéntrico. Nefrología 1988;VIII:224-30.
9. Hernandez R, Núñez F, Martínez C, Fons J, Peris A, Brines J. Excreción urinaria de calcio, magnesio, ácido úrico y ácido oxálico en niños normales. An Esp Pediatr 1988;29:99-104.
10. Vázquez M, Sánchez Bayle M, Écija JL, Montalvo N, Sánchez Medina F, Otero J. Valores normales de uricurisuria en la infancia. Nefrología 1988;VIII:250-4.
11. Schwartz GJ, Brion LP, Spitzer A. The use of plasma creatinina concentration for estimating glomerular filtration rate in infants, children and adolescent. Pediatr Clin North Am 1987;34:571-90.
12. Runnemberg L, Collan Y, Jokinen EJ, Lähdevirta J, Aro A. Hypomagnesemia due to renal disease of unknown etiology. Am J Med 1975;59:873-81.
13. Manz F, Schärer K, Janka P, Lombeck J. Renal magnesium wasting, incomplete tubular acidosis, hypercalciuria and nephrocalcinosis in siblings. Eur J Pediatr 1978;128:67-9.
14. Meier W, Blumberg A, Imahorn W, De Luca F, Wildberger H, Oetliker O. Idiopathic hypercalciuria with bilateral macular colobomata: A new variant of oculo-renal syndrome. Helv Pediat Acta 1979;34;257-69.
15. Evans RA, Carter JN, George CRP, Walls RS, Newland RC, McDonnell GD, et al. The congenital "Magnesium-Losing Kidney". Report of two patients. Q J Med 1981;197:39-52.
16. Gil-Gibernau J, Galan A, Callis L, Rodrigo C. Infantile idiopathic hypercalciuria, high congenital myopia, and atypical macular coloboma: A new oculo-renal syndrome? J Ped Opthalmol Strabismus 1982;19:7-11.
17. Castrillo JM, Rapado A, Traba ML, Esbrit P, Hernando L. Nefrocalcinosis con hipomagnesemia. Nefrología 1983;3:159-65.
18. Ulmann A, Hadj S, Lacour B, Bourdeau A, Bader C. Renal and phosphate wastage in a patient with hypercalciuria and nephrocalcinosis: Effect of oral phosphorus and magnesium supplements. Nephron 1985;40:83-7.
19. Rodríguez-Soriano J, Vallo A, García-Fuentes M. Hypomagnesemia of hereditary renal origin. Pediatr Nephrol 1987;1:465-72.
20. Heras M, Izaguirre C, Garín A, Loris C. Hipomagnesemia- hipercalciuria con nefrocalcinosis y alteraciones oculares. Nefrologia 1987;7:26.
21. Richard O, Freycon MT. Tubulopathie congenitale avec fuite de magnesium. Pediatrie 1992;47:557-63.
22. Ortiz A, Méndez A, Parra EG, Rodeles M, Ortiz Arduan A. Hipomagnesemia familiar con hipercalciuria. Nefrologia 1992;12:50-5.
23. Torralbo A, Pina E, Portolés J, Sánchez-Fructuoso A, Barrientos A. Renal magnesium wasting with hypercalciuria, nephrocalcinosis and ocular disorders. Nephron 1995;69:472-5.
24. Nicholson JC, Jones CL, Powell HR, Walker RG, McCredie DA. Familial hypomagnesemia-hypercalciuria leading to end-stage renal failure. Pediatr Nephrol 1995;9:74-6.
25. Mourani C, Khallouf E, Akkari V, Akatcherian C, Cochat P. Hypomagnesemie, hypercalciurie et nephrocalcinose de revelation precoce: Deux observations familiales. Arch Pédiatr 1999;6:748-51.
26. Gregoric A, Bracic K, Novijan G, Marcun-Varda N. Pseudotumor cerebri in a child with familial hypomagnesemia hypercalciuria. Pediatr Nephrol 2000;14:269-70.
27. Weber S, Schneider L, Peters M, Misselwitz J, Rönnefarth G, Böswald M, et al. Novel Paracellina-1 mutations in 25 families with familial hypomagnesemia with hypercalciuria and nephrocalcinosis. J Am Soc Nephrol 2001;12:1872-81.
28. Blanchard A, Jeunemaitre X, Coudol P, Dechaux M, Froissart M, May A, et al. Paracellin-1 is critical for magnesium and calcium reapsorption in the human thick ascending limb of Henle. Kidney Int 2001;59:2206-15.
29. Carretero J, Camacho JA, Giménez A, García L. Síndrome de hipomagnesemia-hipercalciuria-nefrocalcinosis. An Esp Pediatr 2001;55:484-6.
30. Martín MJ, Canals A, Sanguino L, Gavilán C, Flores J. Hipomagnesemia familiar con hipercalciuria y nefrocalcinosis. An Esp Pediatr 2001;54:174-7.
31. Kuwertz-Bröking E, Fründ S, Bulla M, Kleta R, August C, et al. Familial Hypomagnesemia-hypercalciuria in 2 siblings. Clin Nephrol 2001;56:155-61.
32. Wolf MTF, Dötsh J, Konrad M, Böswald M, Rascher W. Follow-up of five patients with FHHNC due to mutations in the Paracelin-1 gene. Pediatr Nephrol 2002;17:602-8.
33. Kari JA, Farouq M, Alshaya HO. Familial hypomagnesemia with hypercalciuria and nephrocalcinosis. Pediatr Nephrol 2003;18:506-10.
34. Enríquez R, Sirvent AE, Amorós F, Martínez M, Cabezuelo JB, Reyes A. Renal hypomagnesemia, hypercalciuria and nephrocalcinosis in a middle-aged man. Scand J Urol Nephrol 2003;37:93-5.
35. Tajima T, Nakae J, Fujieda K. Two heterozigous mutations of CLDN16 in a Japanese patient with FHHNC. Pediatr Nephrol 2003;18:1280-2.
36. Haffner D, Weinfurth A, Manz F, Schmidt H, Bremer HJ, Mehls O, et al. Long-Term outcome of paediatric patients with hereditary tubular disorders. Nephron 1999;83:250-60.
37. Ohba Y, Kitagawa H, Kitoh K, Sasaki Y, Takami M, Shinkai Y, et al. A deletion of the paracellin-1 gene is responsable for renal tubular dysplasia in cattle. Genomics 2000;68:229-36.
38. Hirano T, Kobayashi N, Itoh T, Takasuga A, Nakamaru T, Hirotsune A, et al. Nullmutation of PCLN-1/Claudin-16 results in bovine chronic interstitial nephritis. Genome Res 2000;10:659-63.
39. Meij IC, Lambert PWJ, Van den Heuvel, Knoers VAM. Genetic disorders of magnesium homeostasis. Biometals 2002;15:297-307.
40. Weber S, Schlingmann KP, Peters M, Nejsum LN, Nielsen S, Engel H, et al. Primary gene structure and expression studies of rodent Paracellin-1. J Am Soc Nephrol 2001;12:2664-72.
41. Barceló P, Wuhl O, Servitge E, Rousaud A, Pak CY. Randomized double-blind study of potassium citrate in idiopathyc hypocitraturic calcium nephrolithiasis. J Urol 1993;150:1 761-4.
42. Monnens L, Starrremans P, Bindels R. Great strides in the understanding of renal magnesium and calcium reabsorption. Nephrol Dial Transplant 2000;15:568-71.