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1986 1
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Page 1
Response of the ENPP1-Deficient Skeletal Phenotype to Oral Phosphate Supplementation and/or Enzyme Replacement Therapy: Comparative Studies in Humans and Mice.
Ferreira CR, Kavanagh D, Oheim R, Zimmerman K, Stürznickel J, Li X, Stabach P, Rettig RL, Calderone L, MacKichan C, Wang A, Hutchinson HA, Nelson T, Tommasini SM, von Kroge S, Fiedler IA, Lester ER, Moeckel GW, Busse B, Schinke T, Carpenter TO, Levine MA, Horowitz MC, Braddock DT. Ferreira CR, et al. J Bone Miner Res. 2021 May;36(5):942-955. doi: 10.1002/jbmr.4254. Epub 2021 Feb 18. J Bone Miner Res. 2021. PMID: 33465815 Free PMC article.
In addition, conventional therapy was associated with the development of medullary nephrocalcinosis in half of the treated patients. Similar to Enpp1(asj/asj) mice on normal chow and to patients with mono- and biallelic ENPP1 mutations, 5-week-old Enpp1(asj/asj) mic …
In addition, conventional therapy was associated with the development of medullary nephrocalcinosis in half of the treated pat …
Medullary nephrocalcinosis in nephropathic cystinosis.
Theodoropoulos DS, Shawker TH, Heinrichs C, Gahl WA. Theodoropoulos DS, et al. Pediatr Nephrol. 1995 Aug;9(4):412-8. doi: 10.1007/BF00866713. Pediatr Nephrol. 1995. PMID: 7577398 Clinical Trial.
We also retrospectively analyzed parameters of calcium and phosphate metabolism representing 216 person-years of data on these children. Fifteen children had no evidence of medullary nephrocalcinosis, while 18 had mild nephrocalcinosis, and 8 severe nephrocalcinosis …
We also retrospectively analyzed parameters of calcium and phosphate metabolism representing 216 person-years of data on these children. Fif …
Biallelic and monoallelic pathogenic variants in CYP24A1 and SLC34A1 genes cause idiopathic infantile hypercalcemia.
Wang Q, Chen JJ, Wei LY, Ding Y, Liu M, Li WJ, Su C, Gong CX. Wang Q, et al. Orphanet J Rare Dis. 2024 Mar 19;19(1):126. doi: 10.1186/s13023-024-03135-8. Orphanet J Rare Dis. 2024. PMID: 38504242 Free PMC article.
RESULTS: Five of the patients were diagnosed with hypercalcemia, hypercalciuria, and bilateral medullary nephrocalcinosis. Their clinical symptoms and biochemical abnormalities improved after treatment. ...
RESULTS: Five of the patients were diagnosed with hypercalcemia, hypercalciuria, and bilateral medullary nephrocalcinosis. The …
Medullary nephrocalcinosis associated with long-term furosemide abuse in adults.
Kim YG, Kim B, Kim MK, Chung SJ, Han HJ, Ryu JA, Lee YH, Lee KB, Lee JY, Huh W, Oh HY. Kim YG, et al. Nephrol Dial Transplant. 2001 Dec;16(12):2303-9. doi: 10.1093/ndt/16.12.2303. Nephrol Dial Transplant. 2001. PMID: 11733620
Kidney biopsies performed in three patients showed focal tubulo-interstitial fibrosis and atrophy and calcifications were observed in outer medullary tubulo-interstitium. CONCLUSIONS: Long-term furosemide abuse can cause medullary nephrocalcinosis in adults, and the …
Kidney biopsies performed in three patients showed focal tubulo-interstitial fibrosis and atrophy and calcifications were observed in outer …
Metabolic and histologic investigation of the nature of nephrocalcinosis in children with hypophosphatemic rickets and in the Hyp mouse.
Alon U, Donaldson DL, Hellerstein S, Warady BA, Harris DJ. Alon U, et al. J Pediatr. 1992 Jun;120(6):899-905. doi: 10.1016/s0022-3476(05)81957-2. J Pediatr. 1992. PMID: 1317418
Mice in the experimental group excreted more phosphate (p less than 0.001) and less calcium (p less than 0.01) than control mice did, and medullary nephrocalcinosis, with a high kidney calcium content, developed (p less than 0.001). ...
Mice in the experimental group excreted more phosphate (p less than 0.001) and less calcium (p less than 0.01) than control mice did, and …
Nephrocalcinosis and its relationship to treatment of hereditary rickets.
Goodyer PR, Kronick JB, Jequier S, Reade TM, Scriver CR. Goodyer PR, et al. J Pediatr. 1987 Nov;111(5):700-4. doi: 10.1016/s0022-3476(87)80245-7. J Pediatr. 1987. PMID: 2822887
A pattern of increased echogenicity of the renal pyramids (ERP) was identified in 11/23 patients with XLH and 3/11 patients with ARVDD; this ultrasonographic finding has previously been associated with medullary nephrocalcinosis. Patients with XLH and ERP had signif …
A pattern of increased echogenicity of the renal pyramids (ERP) was identified in 11/23 patients with XLH and 3/11 patients with ARVDD; this …
High incidence of nephrocalcinosis in extremely preterm infants treated with dexamethasone.
Cranefield DJ, Odd DE, Harding JE, Teele RL. Cranefield DJ, et al. Pediatr Radiol. 2004 Feb;34(2):138-42. doi: 10.1007/s00247-003-1090-7. Epub 2003 Nov 18. Pediatr Radiol. 2004. PMID: 14624322 Clinical Trial.
BACKGROUND: The use of postnatal corticosteroids to treat or prevent chronic lung disease is common in very preterm infants. Medullary nephrocalcinosis has been noted as a possible side effect. ...
BACKGROUND: The use of postnatal corticosteroids to treat or prevent chronic lung disease is common in very preterm infants. Medullary …
Hypomagnesemia with hypercalciuria and nephrocalcinosis: case report and a family study.
Tasic V, Dervisov D, Koceva S, Weber S, Konrad M. Tasic V, et al. Pediatr Nephrol. 2005 Jul;20(7):1003-6. doi: 10.1007/s00467-005-1853-5. Epub 2005 Apr 26. Pediatr Nephrol. 2005. PMID: 15856319
The ultrasound examination of his kidneys demonstrated bilateral diffuse medullary nephrocalcinosis. His serum and urine biochemistry revealed hypomagnesemia (0.4 mmol/l), hyperuricaemia (506 micromol/l), mildly increased iPTH (71 pg/ml) and hypercalciuria (16.0 mg/ …
The ultrasound examination of his kidneys demonstrated bilateral diffuse medullary nephrocalcinosis. His serum and urine bioch …
Renal ultrasound in metabolic bone disease.
Jequier S, Cramer B, Goodyer P, Kronick J, Reade T. Jequier S, et al. Pediatr Radiol. 1986;16(2):135-9. doi: 10.1007/BF02386638. Pediatr Radiol. 1986. PMID: 3513110
Fifty-one patients aged 1 year to 56 years with metabolic bone disease underwent renal ultrasound. Medullary nephrocalcinosis was found in nine of 24 patients with X-linked hypophosphatemic rickets and is considered to be iatrogenic, related to vitamin D therapy. .. …
Fifty-one patients aged 1 year to 56 years with metabolic bone disease underwent renal ultrasound. Medullary nephrocalcinosis …
21 results