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About 1,561 results

ALLMedicine™ Nephrocalcinosis Center

Research & Reviews  775 results

Juvenile dermatomyositis: a case of delayed recognition with unusual complication of ne...
https://doi.org/10.1136/bcr-2020-241152
BMJ Case Reports; Sangeetha G, Dhanabal D et. al.

Apr 2nd, 2021 - Juvenile dermatomyositis (JDM) is the most common inflammatory myopathy in children and is characterised by the presence of proximal muscle weakness, heliotrope dermatitis, Gottron's papules and occasionally auto antibodies. The disease primarily ...

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis.
https://doi.org/10.1007/s00467-021-04968-2 10.1038/ki.1995.199 10.1093/ckj/sfv081 10.1016/0026-0495(72)90025-X 10.1007/BF00477550 10.1053/j.ajkd.2010.08.038 10.1007/BF00849255 10.1681/ASN.2007060709 10.1126/science.285.5424.103 10.1242/jcs.02631 10.1172/JCI33970 10.1007/BF00858976 10.2215/CJN.12841211 10.1093/ndt/gfu374 10.1371/journal.pone.0053151 10.1093/ndt/15.5.605 10.1186/s12882-015-0079-4 10.1007/978-1-62703-224-7_29 10.1016/S0009-9120(00)00173-9 10.1007/s00467-016-3416-3 10.1053/j.ackd.2018.01.003 10.1152/physrev.00012.2014 10.1159/000173762 10.1038/nature13314.A 10.2215/CJN.04480413 10.1002/cphy.c110045 10.1038/emboj.2012.49 10.1002/jbmr.2726 10.1136/jmedgenet-2016-103956 10.1083/jcb.200501154 10.1007/s00418-007-0291-9 10.1007/s00439-017-1779-6 10.3390/genes11030290 10.1002/mgg3.1475 10.1086/380418 10.1172/JCI26323 10.5414/CNCS109595 10.1159/000094253 10.1046/j.1523-1755.2001.0590062206.x 10.1038/s42003-019-0355-0 10.1093/ndt/gfu198 10.1159/000330854 10.1007/s00431-013-1979-6 10.1515/jpem-2013-0254 10.1097/rhu.0b013e31822c55df 10.2215/CJN.02870310 10.1007/s12519-011-0295-3 10.3109/0886022X.2014.977141 10.1186/1756-0500-6-527 10.1157/13069183 10.3265/NefroPlus.pre2011.Feb.10852 10.1038/ejhg.2014.176 10.1097/MNH.0000000000000238 10.1016/j.kint.2016.09.046 10.1093/ckj/sfy102 10.1097/01.ASN.0000023430.92674.E5 10.1007/s00467-004-1609-7 10.1093/ndt/gfl144 10.1007/s00467-002-0884-4 10.2298/SARH1006351P 10.3390/ijms21010369 10.1292/jvms.67.171 10.1038/s41598-019-46250-4 10.1210/jc.2006-0200
Pediatric Nephrology (Berlin, Germany); Vall-Palomar M, Madariaga L et. al.

Feb 17th, 2021 - Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC; OMIM 248250) is a rare autosomal recessive kidney disease caused by mutations in the CLDN16 or CLDN19 genes encoding the proteins claudin-16 and claudin-19, respectively. The...

Hypertension in a patient with medullary sponge kidney: A case report.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7837938
Medicine Wu F, Zhang Y et. al.

Feb 6th, 2021 - Medullary sponge kidney (MSK) is a congenital renal disorder characterized by recurrent nephrolithiasis or nephrocalcinosis. Recently, it has been found that MSK can be also combined with other diseases, such as primary aldosteronism and Beckwith-...

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Guidelines  1 results

Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and ...
https://doi.org/10.1093/ndt/gfs078
Nephrology, Dialysis, Transplantation : Official Publicat... Cochat P, Hulton SA et. al.

May 1st, 2012 - Primary hyperoxaluria Type 1 is a rare autosomal recessive inborn error of glyoxylate metabolism, caused by a deficiency of the liver-specific enzyme alanine:glyoxylate aminotransferase. The disorder results in overproduction and excessive urinary...

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Clinicaltrials.gov  781 results

Juvenile dermatomyositis: a case of delayed recognition with unusual complication of ne...
https://doi.org/10.1136/bcr-2020-241152
BMJ Case Reports; Sangeetha G, Dhanabal D et. al.

Apr 2nd, 2021 - Juvenile dermatomyositis (JDM) is the most common inflammatory myopathy in children and is characterised by the presence of proximal muscle weakness, heliotrope dermatitis, Gottron's papules and occasionally auto antibodies. The disease primarily ...

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis.
https://doi.org/10.1007/s00467-021-04968-2 10.1038/ki.1995.199 10.1093/ckj/sfv081 10.1016/0026-0495(72)90025-X 10.1007/BF00477550 10.1053/j.ajkd.2010.08.038 10.1007/BF00849255 10.1681/ASN.2007060709 10.1126/science.285.5424.103 10.1242/jcs.02631 10.1172/JCI33970 10.1007/BF00858976 10.2215/CJN.12841211 10.1093/ndt/gfu374 10.1371/journal.pone.0053151 10.1093/ndt/15.5.605 10.1186/s12882-015-0079-4 10.1007/978-1-62703-224-7_29 10.1016/S0009-9120(00)00173-9 10.1007/s00467-016-3416-3 10.1053/j.ackd.2018.01.003 10.1152/physrev.00012.2014 10.1159/000173762 10.1038/nature13314.A 10.2215/CJN.04480413 10.1002/cphy.c110045 10.1038/emboj.2012.49 10.1002/jbmr.2726 10.1136/jmedgenet-2016-103956 10.1083/jcb.200501154 10.1007/s00418-007-0291-9 10.1007/s00439-017-1779-6 10.3390/genes11030290 10.1002/mgg3.1475 10.1086/380418 10.1172/JCI26323 10.5414/CNCS109595 10.1159/000094253 10.1046/j.1523-1755.2001.0590062206.x 10.1038/s42003-019-0355-0 10.1093/ndt/gfu198 10.1159/000330854 10.1007/s00431-013-1979-6 10.1515/jpem-2013-0254 10.1097/rhu.0b013e31822c55df 10.2215/CJN.02870310 10.1007/s12519-011-0295-3 10.3109/0886022X.2014.977141 10.1186/1756-0500-6-527 10.1157/13069183 10.3265/NefroPlus.pre2011.Feb.10852 10.1038/ejhg.2014.176 10.1097/MNH.0000000000000238 10.1016/j.kint.2016.09.046 10.1093/ckj/sfy102 10.1097/01.ASN.0000023430.92674.E5 10.1007/s00467-004-1609-7 10.1093/ndt/gfl144 10.1007/s00467-002-0884-4 10.2298/SARH1006351P 10.3390/ijms21010369 10.1292/jvms.67.171 10.1038/s41598-019-46250-4 10.1210/jc.2006-0200
Pediatric Nephrology (Berlin, Germany); Vall-Palomar M, Madariaga L et. al.

Feb 17th, 2021 - Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC; OMIM 248250) is a rare autosomal recessive kidney disease caused by mutations in the CLDN16 or CLDN19 genes encoding the proteins claudin-16 and claudin-19, respectively. The...

Hypertension in a patient with medullary sponge kidney: A case report.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7837938
Medicine Wu F, Zhang Y et. al.

Feb 6th, 2021 - Medullary sponge kidney (MSK) is a congenital renal disorder characterized by recurrent nephrolithiasis or nephrocalcinosis. Recently, it has been found that MSK can be also combined with other diseases, such as primary aldosteronism and Beckwith-...

see more →

News  4 results

A 38-Year-Old Man With Back and Side Pain: Osmosis USMLE Study Question
https://www.medscape.com/viewarticle/899201_2

Feb 20th, 2020 - Nephrocalcinosis is a condition characterized by the calcification of the renal tubules that leads to renal insufficiency. This occurs via metastatic calcification, which means that calcium is deposited in normal tissues, rather than those that ha...

Living Donor Kidney and Parathyroid Transplant Successful
https://www.medscape.com/viewarticle/858175

Feb 2nd, 2016 - NEW YORK (Reuters Health) - A young woman with end-stage nephrocalcinosis secondary to congenital absence of parathyroid glands has received a simultaneous living donor kidney and parathyroid gland transplant, Chicago-based researchers report. In ...

A Case of Sarcoidosis in a Patient With IgA Nephropathy
https://www.medscape.com/viewarticle/501026_3

Mar 28th, 2005 - Discussion We report this interesting case to provide further evidence of an association between sarcoidosis and IgA nephropathy.[1] There is a lack of any large-scale data in the literature regarding the casual relationship of sarcoidosis and IgA...

Tx May Be First for Severe Hypophosphatasia
https://www.mdedge.com/endocrinology/article/53488/pediatrics/tx-may-be-first-severe-hypophosphatasia
Miriam E. Tucker

NEW YORK — The investigational bone-targeting enzyme replacement therapy ENB-0040 was associated with significant bone mineralization and clinical improvements at 6 months in five infants with life-threatening hypophosphatasia who were given the c.

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