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Transient hypophosphatemia

MedGen UID:
870269
Concept ID:
C4024709
Finding
HPO: HP:0008285

Term Hierarchy

Conditions with this feature

Autosomal dominant Kenny-Caffey syndrome
MedGen UID:
1373312
Concept ID:
C4316787
Disease or Syndrome
A rare, primary bone dysplasia characterized by severe growth retardation, short stature, cortical thickening and medullary stenosis of long bones, delayed closure of the anterior fontanelle, absent diploic space in the skull bones, prominent forehead, macrocephaly, dental anomalies, eye problems (hypermetropia and pseudopapilledema), and hypocalcemia due to hypoparathyroidism, sometimes resulting in convulsions. Intelligence is normal.

Professional guidelines

PubMed

Utriainen P, Stenberg JEE, Vettenranta KK, Mäkitie OM
Acta Paediatr 2024 Jun;113(6):1446-1452. Epub 2024 Feb 8 doi: 10.1111/apa.17143. PMID: 38329165
Nielsen LH, Rahbek ET, Beck-Nielsen SS, Christesen HT
Dan Med J 2014 Jul;61(7):A4874. PMID: 25123121
Young G, Shende A
Med Pediatr Oncol 1998 Feb;30(2):117-21. doi: 10.1002/(sici)1096-911x(199802)30:2<117::aid-mpo9>3.0.co;2-l. PMID: 9403021

Recent clinical studies

Etiology

Kelmer E, Ohad DG, Shamir MH, Chai O, Lavie S, Sutton GA, Aroch I, Klainbart S
Vet J 2023 Jan;291:105914. Epub 2022 Oct 8 doi: 10.1016/j.tvjl.2022.105914. PMID: 36220539
Dashwood A, Vale C, Laher S, Chui F, Hay K, Wong YW
J Clin Pharmacol 2021 Apr;61(4):515-521. Epub 2020 Oct 13 doi: 10.1002/jcph.1754. PMID: 33051909
Barras P, Siclari F, Hügli O, Rossetti AO, Lamy O, Novy J
Epilepsia 2019 Aug;60(8):1580-1585. Epub 2019 Jun 18 doi: 10.1111/epi.16090. PMID: 31211423
Lee HW, Suh KS, Kim J, Shin WY, Cho EH, Yi NJ, Lee KU
Surgery 2008 Sep;144(3):448-53. Epub 2008 Jul 22 doi: 10.1016/j.surg.2008.04.016. PMID: 18707044
Wright JD, Chaudhari A, Sadovsky Y
Am J Obstet Gynecol 2004 May;190(5):1447-9. doi: 10.1016/j.ajog.2004.02.027. PMID: 15167865

Diagnosis

Kelmer E, Ohad DG, Shamir MH, Chai O, Lavie S, Sutton GA, Aroch I, Klainbart S
Vet J 2023 Jan;291:105914. Epub 2022 Oct 8 doi: 10.1016/j.tvjl.2022.105914. PMID: 36220539
Barras P, Siclari F, Hügli O, Rossetti AO, Lamy O, Novy J
Epilepsia 2019 Aug;60(8):1580-1585. Epub 2019 Jun 18 doi: 10.1111/epi.16090. PMID: 31211423
Ruggiero B, Trillini M, Tartaglione L, Rotondi S, Perticucci E, Tripepi R, Aparicio C, Lecchi V, Perna A, Peraro F, Villa D, Ferrari S, Cannata A, Mazzaferro S, Mallamaci F, Zoccali C, Bellasi A, Cozzolino M, Remuzzi G, Ruggenenti P, Kohan DE; ANSWER Study Organization
Am J Kidney Dis 2019 Sep;74(3):338-350. Epub 2019 Apr 23 doi: 10.1053/j.ajkd.2019.01.029. PMID: 31027883
Lee EK, Martinez MC, Blakely K, Santos KD, Hoang VC, Chow A, Emmenegger U
Med Hypotheses 2014 Oct;83(4):482-7. Epub 2014 Aug 11 doi: 10.1016/j.mehy.2014.08.005. PMID: 25155552
Wright JD, Chaudhari A, Sadovsky Y
Am J Obstet Gynecol 2004 May;190(5):1447-9. doi: 10.1016/j.ajog.2004.02.027. PMID: 15167865

Therapy

Jin J, Ran Z, Noseda E, Roubert B, Marty M, Mezzacasa A, Göring UM
Front Med 2024 Feb;18(1):98-108. Epub 2023 Oct 28 doi: 10.1007/s11684-023-1001-2. PMID: 37897561
Dashwood A, Vale C, Laher S, Chui F, Hay K, Wong YW
J Clin Pharmacol 2021 Apr;61(4):515-521. Epub 2020 Oct 13 doi: 10.1002/jcph.1754. PMID: 33051909
Ruggiero B, Trillini M, Tartaglione L, Rotondi S, Perticucci E, Tripepi R, Aparicio C, Lecchi V, Perna A, Peraro F, Villa D, Ferrari S, Cannata A, Mazzaferro S, Mallamaci F, Zoccali C, Bellasi A, Cozzolino M, Remuzzi G, Ruggenenti P, Kohan DE; ANSWER Study Organization
Am J Kidney Dis 2019 Sep;74(3):338-350. Epub 2019 Apr 23 doi: 10.1053/j.ajkd.2019.01.029. PMID: 31027883
Lee HW, Suh KS, Kim J, Shin WY, Cho EH, Yi NJ, Lee KU
Surgery 2008 Sep;144(3):448-53. Epub 2008 Jul 22 doi: 10.1016/j.surg.2008.04.016. PMID: 18707044
Body JJ, Lortholary A, Romieu G, Vigneron AM, Ford J
J Bone Miner Res 1999 Sep;14(9):1557-61. doi: 10.1359/jbmr.1999.14.9.1557. PMID: 10469284

Prognosis

Lee EK, Martinez MC, Blakely K, Santos KD, Hoang VC, Chow A, Emmenegger U
Med Hypotheses 2014 Oct;83(4):482-7. Epub 2014 Aug 11 doi: 10.1016/j.mehy.2014.08.005. PMID: 25155552
Hein G, Richter D, Manz F, Weitzel D, Kalhoff H
Pediatr Nephrol 2004 Jun;19(6):616-20. Epub 2004 Mar 31 doi: 10.1007/s00467-004-1428-x. PMID: 15054644
Falcone N, Compagnoni A, Meschini C, Perrone C, Nappo A
Neurol Sci 2004 Feb;24(6):407-10. doi: 10.1007/s10072-003-0197-9. PMID: 14767687
Micetich KC, Futscher B, Koch D, Fisher RI, Erickson LC
J Natl Cancer Inst 1992 Feb 19;84(4):256-60. doi: 10.1093/jnci/84.4.256. PMID: 1531148
del Giglio A, Zukiwski AA, Ali MK, Mavligit GM
Cancer 1991 May 15;67(10):2459-61. doi: 10.1002/1097-0142(19910515)67:10<2459::aid-cncr2820671011>3.0.co;2-l. PMID: 2015546

Clinical prediction guides

Dashwood A, Vale C, Laher S, Chui F, Hay K, Wong YW
J Clin Pharmacol 2021 Apr;61(4):515-521. Epub 2020 Oct 13 doi: 10.1002/jcph.1754. PMID: 33051909
Ruggiero B, Trillini M, Tartaglione L, Rotondi S, Perticucci E, Tripepi R, Aparicio C, Lecchi V, Perna A, Peraro F, Villa D, Ferrari S, Cannata A, Mazzaferro S, Mallamaci F, Zoccali C, Bellasi A, Cozzolino M, Remuzzi G, Ruggenenti P, Kohan DE; ANSWER Study Organization
Am J Kidney Dis 2019 Sep;74(3):338-350. Epub 2019 Apr 23 doi: 10.1053/j.ajkd.2019.01.029. PMID: 31027883
Birgegård G, Henry D, Glaspy J, Chopra R, Thomsen LL, Auerbach M
Pharmacotherapy 2016 Apr;36(4):402-14. Epub 2016 Apr 1 doi: 10.1002/phar.1729. PMID: 26927900Free PMC Article
Lee EK, Martinez MC, Blakely K, Santos KD, Hoang VC, Chow A, Emmenegger U
Med Hypotheses 2014 Oct;83(4):482-7. Epub 2014 Aug 11 doi: 10.1016/j.mehy.2014.08.005. PMID: 25155552
Lee HW, Suh KS, Kim J, Shin WY, Cho EH, Yi NJ, Lee KU
Surgery 2008 Sep;144(3):448-53. Epub 2008 Jul 22 doi: 10.1016/j.surg.2008.04.016. PMID: 18707044

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