Familial hypocalciuric hypercalcemia in the donor and recipient of a living related donor kidney transplant

J. E. Novak, D. W. Butterly, D. M. Desai, C. E. Marroquin, A. Greenberg

Research output: Contribution to journalArticle

Abstract

Familial hypocalciuric hypercalcemia (FHH) is caused by heterozygous inactivation of the calcium-sensing receptor, which is notably expressed in parathyroid and kidney. FHH is characterized by asymptomatic hypercalcemia and hypophosphatemia and confers minimal, if any, morbidity. Renal transplantation in patients with FHH has not been described previously. This report describes a patient with FHH who developed end-stage renal disease from another cause and subsequently received a living related donor kidney transplant from her FHH-affected daughter. The excellent posttransplant clinical course of both recipient and donor is emphasized.

Original languageEnglish (US)
Pages (from-to)718-721
Number of pages4
JournalAmerican Journal of Transplantation
Volume7
Issue number3
DOIs
StatePublished - Mar 2007

Fingerprint

Living Donors
Tissue Donors
Transplants
Kidney
Hypophosphatemia
Calcium-Sensing Receptors
Hypercalcemia
Nuclear Family
Kidney Transplantation
Chronic Kidney Failure
Hypocalciuric hypercalcemia, familial, type 1
Morbidity

Keywords

  • Familial
  • FHH
  • Hereditary
  • Hypercalcemia
  • Hypocalciuric
  • Kidney
  • PTH
  • Renal
  • Transplant

ASJC Scopus subject areas

  • Immunology

Cite this

Familial hypocalciuric hypercalcemia in the donor and recipient of a living related donor kidney transplant. / Novak, J. E.; Butterly, D. W.; Desai, D. M.; Marroquin, C. E.; Greenberg, A.

In: American Journal of Transplantation, Vol. 7, No. 3, 03.2007, p. 718-721.

Research output: Contribution to journalArticle

Novak, J. E. ; Butterly, D. W. ; Desai, D. M. ; Marroquin, C. E. ; Greenberg, A. / Familial hypocalciuric hypercalcemia in the donor and recipient of a living related donor kidney transplant. In: American Journal of Transplantation. 2007 ; Vol. 7, No. 3. pp. 718-721.
@article{68730c5e8c844566b21016163576811c,
title = "Familial hypocalciuric hypercalcemia in the donor and recipient of a living related donor kidney transplant",
abstract = "Familial hypocalciuric hypercalcemia (FHH) is caused by heterozygous inactivation of the calcium-sensing receptor, which is notably expressed in parathyroid and kidney. FHH is characterized by asymptomatic hypercalcemia and hypophosphatemia and confers minimal, if any, morbidity. Renal transplantation in patients with FHH has not been described previously. This report describes a patient with FHH who developed end-stage renal disease from another cause and subsequently received a living related donor kidney transplant from her FHH-affected daughter. The excellent posttransplant clinical course of both recipient and donor is emphasized.",
keywords = "Familial, FHH, Hereditary, Hypercalcemia, Hypocalciuric, Kidney, PTH, Renal, Transplant",
author = "Novak, {J. E.} and Butterly, {D. W.} and Desai, {D. M.} and Marroquin, {C. E.} and A. Greenberg",
year = "2007",
month = "3",
doi = "10.1111/j.1600-6143.2007.01670.x",
language = "English (US)",
volume = "7",
pages = "718--721",
journal = "American Journal of Transplantation",
issn = "1600-6135",
publisher = "Wiley-Blackwell",
number = "3",

}

TY - JOUR

T1 - Familial hypocalciuric hypercalcemia in the donor and recipient of a living related donor kidney transplant

AU - Novak, J. E.

AU - Butterly, D. W.

AU - Desai, D. M.

AU - Marroquin, C. E.

AU - Greenberg, A.

PY - 2007/3

Y1 - 2007/3

N2 - Familial hypocalciuric hypercalcemia (FHH) is caused by heterozygous inactivation of the calcium-sensing receptor, which is notably expressed in parathyroid and kidney. FHH is characterized by asymptomatic hypercalcemia and hypophosphatemia and confers minimal, if any, morbidity. Renal transplantation in patients with FHH has not been described previously. This report describes a patient with FHH who developed end-stage renal disease from another cause and subsequently received a living related donor kidney transplant from her FHH-affected daughter. The excellent posttransplant clinical course of both recipient and donor is emphasized.

AB - Familial hypocalciuric hypercalcemia (FHH) is caused by heterozygous inactivation of the calcium-sensing receptor, which is notably expressed in parathyroid and kidney. FHH is characterized by asymptomatic hypercalcemia and hypophosphatemia and confers minimal, if any, morbidity. Renal transplantation in patients with FHH has not been described previously. This report describes a patient with FHH who developed end-stage renal disease from another cause and subsequently received a living related donor kidney transplant from her FHH-affected daughter. The excellent posttransplant clinical course of both recipient and donor is emphasized.

KW - Familial

KW - FHH

KW - Hereditary

KW - Hypercalcemia

KW - Hypocalciuric

KW - Kidney

KW - PTH

KW - Renal

KW - Transplant

UR - http://www.scopus.com/inward/record.url?scp=33847711459&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=33847711459&partnerID=8YFLogxK

U2 - 10.1111/j.1600-6143.2007.01670.x

DO - 10.1111/j.1600-6143.2007.01670.x

M3 - Article

C2 - 17217434

AN - SCOPUS:33847711459

VL - 7

SP - 718

EP - 721

JO - American Journal of Transplantation

JF - American Journal of Transplantation

SN - 1600-6135

IS - 3

ER -