Hypomagnesemia with hypercalciuria and nephrocalcinosis: Case report and a family study

Pediatric Nephrology

Volumn 20, Issue 7, 2005, Pages 1003-1006

  Tasic, Velibor ^a   Dervisov, Donco ^b   Koceva, Svetlana ^a   Weber, Stefanie ^c   Konrad, Martin ^d  

^a UNIVERSITY CHILDREN S HOSPITAL   (Macedonia)

^b Medical Center   (Macedonia)

^c UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^d UNIVERSITY OF BERN   (Switzerland)

Author keywords

CLDN1; Familial hypomagnesemia; Hypercalciuria; Nephrocalcinosis; Paracellin 1

Indexed keywords

CEFTRIAXONE; HYDROCHLOROTHIAZIDE; MAGNESIUM CITRATE; PARATHYROID HORMONE;

ADULT; AGED; ARTICLE; CHEMICAL ANALYSIS; CLDN16 GENE; CLINICAL ARTICLE; DNA EXTRACTION; ECHOGRAPHY; ESCHERICHIA COLI; FAMILIAL HYPOMAGNESEMIA WITH HYPERCALCIURIA AND KIDNEY CALCIFICATION; FEMALE; FEVER; FOLLOW UP; GENE MUTATION; GENETIC COUNSELING; HEMATURIA; HIGH RISK POPULATION; HOMOZYGOSITY; HUMAN; HYPERURICEMIA; INFANT; KIDNEY FUNCTION; KIDNEY TUBULE DISORDER; MALE; MARKER GENE; MUTATIONAL ANALYSIS; NEPHROLITHIASIS; PARATHYROID HORMONE BLOOD LEVEL; PATHOPHYSIOLOGY; POLYDIPSIA; POLYURIA; PRIORITY JOURNAL; PYURIA; SCHOOL CHILD; SEQUENCE ANALYSIS; SYMPTOMATOLOGY; TREATMENT OUTCOME; URINARY TRACT INFECTION;

ADULT; AMINO ACID SUBSTITUTION; CALCIUM; FEMALE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; INFANT; LEUCINE; MAGNESIUM DEFICIENCY; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MUTATION; NEPHROCALCINOSIS; PHENYLALANINE;

EID: 21344464699     PISSN: 0931041X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00467-005-1853-5     Document Type: Article

References (24)

1. Rodriguez-Soriano J, Vallo A, Garcia-Fuentes M (1987) Hypomagnesaemia of hereditary renal origin. Pediatr Nephrol 1:465-472
2. Konrad M, Weber S (2003) Recent advances in molecular genetics of hereditary magnesium-losing disorders. J Am Soc Nephrol 14: 249-260
3. Weber S, Schneider L, Peters M, Misselwitz J, Ronnenfarth G, Boswald M, Bonzel KE, Seeman T, Sulakova T, Kuwertz-Broking E, Gregoric A, Palcoux J-B, Tasic V, Manz F, Scharer K, Seyberth HW, Konrad M (2001) Novel paracellin-1 mutations in 25 families with familial hypomagnesemia with hypercalciuria and nephrocalcinosis. J Am Soc Nephrol 12:1872-1881
4. Cole DE, Quamme GA (2000) Inherited disorders of renal magnesium handling. J Am Soc Nephrol 11:1937-1947
5. Schwartz GJ, Brion LP, Spitzer A (1987) The use of plasma creatinine concentration for estimating glomerular filtration rate in infants, children, and adolescents. Pediatr Clin North Am 34 571-590
6. Pierrat A, Gravier E, Saunders C, Caira MV, Ait-Djafer Z, Legras B, Mallie JP (2003) Predicting GFR in children and adults: A comparison of the Cockcroft-Gault, Schwartz, and modification of diet in renal disease formulas. Kidney Int 64:1425-1436
7. Matos V, van Melle G, Boulat O, Markert M, Bachmann C, Guignard JP (1997) Urinary phosphate/creatinine, calcium/creatinine, and magnesium/ creatinine ratios in a healthy pediatric population. J Pediatr 131:252-257
8. Weber S, Hoffmann K, Jeck N, Saar K, Boeswald M, Kuwertz-Broeking E, Meij IIC, Knoers NV, Cochat P, Sulakova T, Bonzel KE, Soergel M, Manz F, Schaerer K, Seyberth HW, Reis A, Konrad M (2000) Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis maps to chromosome 3q27 and is associated with mutations in the PCLN-1 gene. Eur J Hum Genet 8:414-422
9. Michelis MF, Drash AL, Linarelli LG, De Rubertis FR, Davis BB (1972) Decreased bicarbonate threshold and renal magnesium wasting in a sibship with distal renal tubular acidosis: Evaluation of the pathophysiological role of parathyroid hormone. Metabolism 21 905-920
10. Rodriguez-Soriano J, Vallo A (1994) Pathophysiology of the renal acidification defect present in the syndrome of familial hypomagnesaemia-hypercalciuria. Pediatr Nephrol 8:431-435
11. Praga M, Vara J, Gonzalez-Parra E, Andres A, Alamo C, Araque A, Ortiz A, Rodicio JL (1995) Familial hypomagnesemia with hypercalciuria and nephrocalcinosis. Kidney Int 47:1419-1425
12. Benigno V, Canonica CS, Bettinelli A, von Vigier RO, Truttmann AC, Bianchetti MG (2000) Hypomagnesaemia-hypercalciuria-nephrocalcinosis: A report of nine cases and a review. Nephrol Dial Transplant 15:605-610
13. Wolf MT, Dotsch J, Konrad M, Boswald M, Rascher W (2002) Follow-up of five patients with FHHNC due to mutations in the Paracellin-1 gene. Pediatr Nephrol 17 602-608
14. Nicholson JC, Jones CL, Powell HR, Walker RG, McCredie DA (1995) Familial hypomagnesaemia-hypercalciuria leading to end-stage renal failure. Pediatr Nephrol 9:74-76
15. Mourani C, Khallouf E, Akkari V, Akatcherian C, Cochat P (1999) Early hypomagnesemia, hypercalciuria and nephrocalcinosis: Two cases in a family. Arch Pediatr 6:748-51
16. Kuwertz-Broking E, Frund S, Bulla M, Kleta R, August C, Kisters K (2001) Familial hypomagnesemia-hypercalciuria in 2 siblings. Clin Nephrol 56:155-161
17. Blanchard A, Jeunemaitre X, Coudol P, Dechaux M, Froissart M, May A, Demontis R, Fournier A, Paillard M, Houillier P (2001) Paracellin-1 is critical for magnesium and calcium reabsorption in the human thick ascending limb of Henle. Kidney Int 59:2206-2215
18. Simon DB, Lu Y, Choate KA, Velazquez H, Al-Sabban E, Praga M, Casari G, Bettinelli A, Colussi G, Rodriguez-Soriano J, McCredie D, Milford D, Sanjad S, Lifton RP (1999) Paracellin-1, a renal tight junction protein required for paracellular Mg2+ resorption. Science 285:103-106
19. Muller D, Kausalya PJ, Claverie-Martin F, Meij IC, Eggert P, Garcia-Nieto V, Hunziker W (2003) A novel claudin 16 mutation associated with childhood hypercalciuria abolishes binding to ZO-1 and results in lysosomal mistargeting. Am J Hum Genet 73:1293-1301
20. Enriquez R, Sirvent AE, Amoros F, Martinez M, Cabezuelo JB, Reyes A (2003) Renal hypomagnesemia, hypercalciuria and nephrocalcinosis in a middle-aged man. Scand J Urol Nephrol 3 93-95
21. Gregoric A, Bracic K, Novljan G, Marcun-Varda N (2000) Pseudotumor cerebri in a child with familial hypomagnesemia-hypercalciuria. Pediatr Nephrol 14:269-270
22. Ulmann A, Hadj S, Lacour B, Bourdeau A, Bader C (1985) Renal magnesium and phosphate wastage in a patient with hypercalciuria and nephrocalcinosis: Effect of oral phosphorus and magnesium supplements. Nephron 40:83-87
23. Kari JA, Farouq M, Alshaya HO (2003) Familial hypomagnesemia with hypercalciuria and nephrocalcinosis. Pediatr Nephrol 18:506-510
24. Tajima T, Nakae J, Fujieda K (2003) Two heterozygous mutations of CLDN16 in a Japanese patient with FHHNC. Pediatr Nephrol; 18:1280-1282