Photo of Harald (Harald) W. Jueppner, MD

Harald (Harald) W. Jueppner, MD

  • Chief, Pediatric Nephrology

617-726-2908

Accepting New Patients

Overview

Care of patients with disorders affecting the kidneys and the urinary tract, particularly genetic disorders leading to an abnormal regulation of mineral ion homeostasis and bone health.

Departments

Pediatrics

Centers & Specialties

MassGeneral Hospital for Children

Transplant Center

Clinical Interests
  • Endocrinology
  • Nephrology
  • Renal osteodystrophy
Medical Education
  • MD, Medizinische Hochschule
  • Residency, Medizinische Hochschule
  • Fellowship, Massachusetts General Hospital
Foreign Languages
  • French
  • German
Locations
  • Boston: Massachusetts General Hospital
Patient Gateway
Yes, learn more
Insurances Accepted
  • Aetna Health Inc.
  • Beech Street
  • Blue Cross Blue Shield - Blue Care 65
  • Blue Cross Blue Shield - Indemnity
  • Blue Cross Blue Shield - Managed Care
  • Blue Cross Blue Shield - Partners Plus
  • Cigna (PAL #'s)
  • Fallon Community HealthCare
  • Great-West Healthcare (formally One Health Plan)
  • Harvard Pilgrim Health Plan - ACD
  • Harvard Pilgrim Health Plan - PBO
  • Health Care Value Management (HCVM)
  • Humana/Choice Care PPO
  • MassHealth
  • Medicare
  • Medicare - ACD
  • Neighborhood Health Plan - ACD
  • Neighborhood Health Plan - PBO
  • OSW - Maine
  • OSW - New Hampshire
  • OSW - Rhode Island
  • OSW - Vermont
  • Private Health Care Systems (PHCS)
  • Railroad Medicare
  • Railroad Medicare - ACD
  • Senior Whole Health
  • TriCare
  • Tufts Health Plan
  • Unicare
  • United Healthcare (non-HMO) - ACD
  • United Healthcare (non-HMO) - PBO

Note: This provider may accept more insurance plans than shown; please call the practice to find out if your plan is accepted.

Patient Age Group
Pediatric
Gender
Male

Biography

1976-1982                   Medizinische Hochschule Hannover, Germany, Arzt

1980-1981                   Tufts University, Medical School, Boston, MA, Third-Year Medical Student

1983-1989                   Dept. of Pediatrics, Medizinische Hochschule Hannover, Hannover, Germany

1986-1988                   Research Fellow in Medicine, Harvard Medical School, Mass General Hospital, Boston, MA

1989-1993                   Assistant Professor of Pediatrics, Harvard Medical School, Boston, MA

1993-2006                   Associate Professor of Pediatrics, Harvard Medical School, Boston, MA

2003-2007                   Associate Pediatrician, Massachusetts General Hospital, Boston, MA

2003-                           Chief, Pediatric Nephrology Unit, Massachusetts General Hospital, Boston, MA

2006-                           Professor of Pediatrics, Harvard Medical School, Boston, MA

Research & Publications

Research Summary

Dr. Jueppner has been studying the regulation of calcium and phosphate homeostasis. After joining the Endocrine Unit in 1986, he worked initially on the characterization and then the molecular cloning of the PTH/PTHrP receptor (PTHR1) through an expression cloning approach. Besides characterizing this G protein-coupled receptor extensively, additional investigations focused on defining inherited human disorders associated with an abnormal regulation of mineral ion homeostasis and bone metabolism.  In addition to determining the molecular cause of Jansen’s metaphyseal chondrodysplasia, infantile cortical hyperostosis, and different forms of hypo- and hyperphosphatemia, his efforts led to the discovery of microdeletions within or up-stream of the GNAS locus as the cause of autosomal dominant pseudohypoparathyroidism type Ib (PHP-Ib) and to the discovery of homozygous or compound heterozygous mutations in NPT2c (also referred to as NaPi-IIc) as the cause of hereditary hypophoshatemic rickets with hypercalciuria (HHRH). He developed the first murine model of PHP-Ib and tested in vivo the effect of different PTH analogs on phosphate homeostasis and Npt2a/c expression.  For example, he showed that the acute phosphaturic actions of PTH are mediated through the cAMP/PKA pathway, while the long-term regulation of renal phosphate handling requires the IP3/PKC signaling pathway.  In addition, Dr. Jueppner developed one of the first assays for the measurement of FGF23, which was used for evaluating the role of this phosphaturic hormone in different disorders, particularly in patients with chronic kidney disease (CKD). He furthermore has expertise in the measurement of PTH through different immunoassays and using these measurements for predicting bone disease in CKD patients.

Publications
  1. Jüppner H, Abou-Samra AB, Freeman M, Kong XF, Schipani E, Richards J, Kolakowski LF Jr, Hock J, Potts JT Jr., Kronenberg HM, Segre GV. A G protein-linked PTH/PTHrP receptor. Science. 1991;254:1024.
  2. Schipani E, Kruse K, Jüppner H. A mutant PTH-PTHrP receptor in Jansen-type metaphyseal chondrodysplasia. Science. 1995;268:98.
  3. Bastepe M, Fröhlich LF, Linglart A, Abu-Zahra H, Tojo K, Ward LM, Jüppner H. Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib. Nat. Genet. 2005;37:25.
  4. Bergwitz C, Roslin NM, Tieder M, Loredo-Osti JC, Bastepe M, Abu-Zahra H, Carpenter TO, Anderson D, Garabédian M, Sermet I, Fujiwara TM, Morgan KN, Tenenhouse HS, Jüppner H. SLC34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria (HHRH).  Am. J. Human Genet. 2006;78:179.
  5.  Mannstadt M, Bertrand G, Muresan M, Weryha G, Leheup B, Pulusani SR, Grandchamp B, Jüppner H, Silve C.  GCMB mutations cause an autosomal dominant form of hypoparathyroidism. J. Clin. Endocrinol. Metab. 2008;93:3568.
  6. Mannstadt M, Harris M, Bravenboer B, Chitturi S, Dreijerink KMA, Lambright DG, Lim ET, Daly MJ, Gabriel S, Jüppner H. Germline mutations affecting Ga11 in hypoparathyroidism. New Engl. J. Med. 2013;368:2532.
  7. Jonsson KB, Zahradnik R, Larsson T, White KE, Sugimoto T, Imanishi Y, Yamamoto T, Hampson G, Koshiyama H, Ljunggren Ö, Oba K, Yang IM, Miyauchi A, Econs MJ, Lavigne J, Jüppner H. FGF23 in oncogenic osteomalacia and X-linked hypophosphatemia. New Engl. J. Med. 2003;348:1656.

News & Events

  • In memoriam: Michael Linshaw, MD

    MGH Hotline 1.7.11 Michael Linshaw, MD, a pediatric nephrologist for MassGeneral Hospital for Children (MGHfC), died Dec. 31 at his home in Newton. Linshaw, who worked at MGHfC for more than a decade, was 70 years old.

Contact

Pediatric Medicine
55 Fruit Street
Boston, MA 02114-2696
Phone 1: 617-726-2908
Phone 2: 617-724-7779
Fax: 617-724-0581

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