Friedhelm Hildebrandt

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Friedhelm Hildebrandt (born February 11, 1957) is the William E. Harmon Professor of Pediatrics at Harvard Medical School and Chief of the Division of Nephrology at Boston Children's Hospital. [1] He was formerly an Investigator of the Howard Hughes Medical Institute (HHMI) and the Frederick G.L. Huetwell Professor of Pediatrics at the University of Michigan. [2] [3]

Contents

Early life and education

Hildebrandt received his M.D. degree from Heidelberg University (Germany), obtained his pediatrics and nephrology subspecialty training at Marburg University Children's Hospital, and was a postdoctoral research fellow in nephrology at Yale School of Medicine (Peter Aronson & Peter Igarashi).[ citation needed ]

Research

Friedhelm Hildebrandt identified and functionally characterized multiple kidney diseases caused by single-genes (Mendelian) including nephrotic syndrome, cystic renal ciliopathies, [4] and congenital anomalies of the kidney [5]

Hildebrandt was elected to the American National Academy of Medicine in 2015, [6] Leopoldina in 2007, [7] and to the Association of American Physicians in 2005. [8] He is a recipient of the Homer Smith Award of the American Society of Nephrology (2014), [9] the Alfred R. Newton Award of the International Society of Nephrology (ISN) (2017), [10] and the E. Mead Johnson Award [11] from the Society for Pediatric Research (2004).

Hildebrandt’s group has identified over 80 novel causative genes of the 240 genes that are currently known to cause chronic kidney disease, if mutated. [12] His laboratory delineated the related disease mechanisms by generating animal models of human kidney disease in mice, zebrafish, C. elegans, and Drosophila as well in cell-based systems. He demonstrated that in a very high percentage of cases with early-onset chronic kidney disease a single-gene cause may be identified. [13] [14] Link to pertinent publications. [12]

Related Research Articles

<span class="mw-page-title-main">Cilium</span> Organelle found on eukaryotic cells

The cilium, is a membrane-bound organelle found on most types of eukaryotic cell. Cilia are absent in bacteria and archaea. The cilium has the shape of a slender threadlike projection that extends from the surface of the much larger cell body. Eukaryotic flagella found on sperm cells and many protozoans have a similar structure to motile cilia that enables swimming through liquids; they are longer than cilia and have a different undulating motion.

<span class="mw-page-title-main">Nephrotic syndrome</span> Collection of symptoms due to kidney damage

Nephrotic syndrome is a collection of symptoms due to kidney damage. This includes protein in the urine, low blood albumin levels, high blood lipids, and significant swelling. Other symptoms may include weight gain, feeling tired, and foamy urine. Complications may include blood clots, infections, and high blood pressure.

<span class="mw-page-title-main">Kidney disease</span> Damage to or disease of a kidney

Kidney disease, or renal disease, technically referred to as nephropathy, is damage to or disease of a kidney. Nephritis is an inflammatory kidney disease and has several types according to the location of the inflammation. Inflammation can be diagnosed by blood tests. Nephrosis is non-inflammatory kidney disease. Nephritis and nephrosis can give rise to nephritic syndrome and nephrotic syndrome respectively. Kidney disease usually causes a loss of kidney function to some degree and can result in kidney failure, the complete loss of kidney function. Kidney failure is known as the end-stage of kidney disease, where dialysis or a kidney transplant is the only treatment option.

<span class="mw-page-title-main">Alport syndrome</span> Medical condition

Alport syndrome is a genetic disorder affecting around 1 in 5,000-10,000 children, characterized by glomerulonephritis, end-stage kidney disease, and hearing loss. Alport syndrome can also affect the eyes, though the changes do not usually affect vision, except when changes to the lens occur in later life. Blood in urine is universal. Proteinuria is a feature as kidney disease progresses.

<span class="mw-page-title-main">Podocyte</span> Type of kidney cell

Podocytes are cells in Bowman's capsule in the kidneys that wrap around capillaries of the glomerulus. Podocytes make up the epithelial lining of Bowman's capsule, the third layer through which filtration of blood takes place. Bowman's capsule filters the blood, retaining large molecules such as proteins while smaller molecules such as water, salts, and sugars are filtered as the first step in the formation of urine. Although various viscera have epithelial layers, the name visceral epithelial cells usually refers specifically to podocytes, which are specialized epithelial cells that reside in the visceral layer of the capsule. One type of specialized epithelial cell is podocalyxin.

<span class="mw-page-title-main">Cystinuria</span> Amino acid metabolic disorder involving cystine stones forming in the kidneys, ureter, and bladder

Cystinuria is an inherited autosomal recessive disease characterized by high concentrations of the amino acid cystine in the urine, leading to the formation of cystine stones in the kidneys, ureters, and bladder. It is a type of aminoaciduria. "Cystine", not "cysteine," is implicated in this disease; the former is a dimer of the latter.

<span class="mw-page-title-main">Membranous glomerulonephritis</span> Medical condition

Membranous glomerulonephritis (MGN) is a slowly progressive disease of the kidney affecting mostly people between ages of 30 and 50 years, usually white people.

<span class="mw-page-title-main">Gitelman syndrome</span> Medical condition

Gitelman syndrome (GS) is an autosomal recessive kidney tubule disorder characterized by low blood levels of potassium and magnesium, decreased excretion of calcium in the urine, and elevated blood pH. It is the most frequent hereditary salt-losing tubulopathy. Gitelman syndrome is caused by disease-causing variants on both alleles of the SLC12A3 gene. The SLC12A3 gene encodes the thiazide-sensitive sodium-chloride cotransporter, which can be found in the distal convoluted tubule of the kidney.

<span class="mw-page-title-main">Minimal change disease</span> Medical condition

Minimal change disease is a disease affecting the kidneys which causes a nephrotic syndrome. Nephrotic syndrome leads to the loss of significant amounts of protein in the urine, which causes the widespread edema and impaired kidney function commonly experienced by those affected by the disease. It is most common in children and has a peak incidence at 2 to 6 years of age. MCD is responsible for 10–25% of nephrotic syndrome cases in adults. It is also the most common cause of nephrotic syndrome of unclear cause (idiopathic) in children.

<span class="mw-page-title-main">Focal segmental glomerulosclerosis</span> Kidney disease

Focal segmental glomerulosclerosis (FSGS) is a histopathologic finding of scarring (sclerosis) of glomeruli and damage to renal podocytes. This process damages the filtration function of the kidney, resulting in protein loss in the urine. FSGS is a leading cause of excess protein loss—nephrotic syndrome—in children and adults. Signs and symptoms include proteinuria, water retention, and edema. Kidney failure is a common long-term complication of disease. FSGS can be classified as primary versus secondary depending on whether a particular toxic or pathologic stressor can be identified as the cause. Diagnosis is established by renal biopsy, and treatment consists of glucocorticoids and other immune-modulatory drugs. Response to therapy is variable, with a significant portion of patients progressing to end-stage kidney failure. FSGS is estimated to occur in 2-3 persons per million, with males and African peoples at higher risk.

<span class="mw-page-title-main">Galloway Mowat syndrome</span> Medical condition

Galloway Mowat syndrome is a very rare autosomal recessive genetic disorder, consisting of a variety of features including hiatal hernia, microcephaly and nephrotic syndrome.

Podocin is a protein component of the filtration slits of podocytes. Glomerular capillary endothelial cells, the glomerular basement membrane and the filtration slits function as the filtration barrier of the kidney glomerulus. Mutations in the podocin gene NPHS2 can cause nephrotic syndrome, such as focal segmental glomerulosclerosis (FSGS) or minimal change disease (MCD). Symptoms may develop in the first few months of life or later in childhood.

<span class="mw-page-title-main">Nephronophthisis</span> Medical condition

Nephronophthisis is a genetic disorder of the kidneys which affects children. It is classified as a medullary cystic kidney disease. The disorder is inherited in an autosomal recessive fashion and, although rare, is the most common genetic cause of childhood kidney failure. It is a form of ciliopathy. Its incidence has been estimated to be 0.9 cases per million people in the United States, and 1 in 50,000 births in Canada.

Primary hyperoxaluria is a rare condition, resulting in increased excretion of oxalate, with oxalate stones being common.

<span class="mw-page-title-main">Ciliopathy</span> Genetic disease resulting in abnormal formation or function of cilia

A ciliopathy is any genetic disorder that affects the cellular cilia or the cilia anchoring structures, the basal bodies, or ciliary function. Primary cilia are important in guiding the process of development, so abnormal ciliary function while an embryo is developing can lead to a set of malformations that can occur regardless of the particular genetic problem. The similarity of the clinical features of these developmental disorders means that they form a recognizable cluster of syndromes, loosely attributed to abnormal ciliary function and hence called ciliopathies. Regardless of the actual genetic cause, it is clustering of a set of characteristic physiological features which define whether a syndrome is a ciliopathy.

<span class="mw-page-title-main">Polycystic kidney disease</span> Congenital disorder of urinary system

Polycystic kidney disease is a genetic disorder in which the renal tubules become structurally abnormal, resulting in the development and growth of multiple cysts within the kidney. These cysts may begin to develop in utero, in infancy, in childhood, or in adulthood. Cysts are non-functioning tubules filled with fluid pumped into them, which range in size from microscopic to enormous, crushing adjacent normal tubules and eventually rendering them non-functional as well.

<span class="mw-page-title-main">Martin Barratt</span> British paediatrician and professor

Thomas Martin Barratt was a British paediatrician and professor of paediatric nephrology. Barratt was most notable for developing a specialist service for children with kidney diseases in Britain, bringing peritoneal dialysis, haemodialysis, and later renal transplantation to ever younger children. Barratt was an early advocate for multidisciplinary care and developed a model that was later taken up by many other specialist centres across the world. His research led to a new treatments for many types of childhood kidney diseases., and for research into childhood Nephrotic syndrome and Hemolytic-uremic syndrome.

<span class="mw-page-title-main">Tetratricopeptide repeat domain 21b</span> Protein-coding human gene

Tetratricopeptide repeat domain 21B is a protein that in humans is encoded by the TTC21B gene.

<span class="mw-page-title-main">Josef Coresh</span> American epidemiologist

Josef Coresh is an American epidemiologist. He is the inaugural George W. Comstock Professor in the Department of Epidemiology at Johns Hopkins University. Coresh serves as the director of both the Cardiovascular Epidemiology Training Program and the George W. Comstock Center for Public Health Research and Prevention at the Johns Hopkins School of Medicine.

<span class="mw-page-title-main">Katalin Susztak</span> Hungarian-American nephrologist

Katalin Susztak (Suszták) is a Hungarian American scientist and nephrologist at the Perelman School of Medicine at the University of Pennsylvania. She is a professor of medicine and genetics, and currently the codirector of the Complications Unit at the Institute for Diabetes, Obesity and Metabolism. Her laboratory made major contributions to the current understanding of kidney disease development. She is also the founder of the Transformative Research In DiabEtic NephropaThy (TRIDENT), a collaborative network of physicians and basic scientists, to find cures for diabetic kidney disease.

References

  1. ↑ "BCH Division of Nephrology". BCH Division of Nephrology Hildebrandt. Retrieved 29 March 2020.
  2. ↑ "HHMI". HHMI - Hildebrandt. HHMI. Retrieved 29 March 2020.
  3. ↑ "UoM" (PDF). UoM Hildebrandt. University of Michigan. Retrieved 29 March 2020.
  4. ↑ Hildebrandt, F; Benzing, T; Katsanis, N (21 April 2011). "Ciliopathies". The New England Journal of Medicine. 364 (16): 1533–43. doi:10.1056/NEJMra1010172. PMC   3640822 . PMID   21506742.
  5. ↑ Vivante, A; Hildebrandt, F (March 2016). "Exploring the genetic basis of early-onset chronic kidney disease". Nature Reviews. Nephrology. 12 (3): 133–46. doi:10.1038/nrneph.2015.205. PMC   5202482 . PMID   26750453.
  6. ↑ "National Academy of Medicine". National Academy of Medicine - Hildebrandt. Retrieved 29 March 2020.
  7. ↑ "Leopoldina". Leopoldina - Hildebrandt. Retrieved 29 March 2020.
  8. ↑ Association of American Physicians. AAP https://aap-online.org/ . Retrieved 29 March 2020.{{cite web}}: Missing or empty |title= (help)
  9. ↑ "ASN - Homer Smith Award". Homer Smoth W. Award. American Society of Nephrology. Retrieved 29 March 2020.
  10. ↑ "ISN Awards". A.N. Richards Award. International Society of Nephrology. Retrieved 29 March 2020.
  11. ↑ "Past Award Recipients". E. Mead Johnson Award. Society for Pediatric Research. Retrieved 29 March 2020.
  12. 1 2 Search Results for author Hildebrandt F on PubMed .
  13. ↑ Sadowski, Carolin E.; Lovric, Svjetlana; Ashraf, Shazia; Pabst, Werner L.; Gee, Heon Yung; Kohl, Stefan; Engelmann, Susanne; Vega-Warner, Virginia; Fang, Humphrey; Halbritter, Jan; Somers, Michael J.; Tan, Weizhen; Shril, Shirlee; Fessi, Inès; Lifton, Richard P.; Bockenhauer, Detlef; El-Desoky, Sherif; Kari, Jameela A.; Zenker, Martin; Kemper, Markus J.; Mueller, Dominik; Fathy, Hanan M.; Soliman, Neveen A.; Hildebrandt, Friedhelm (June 2015). "A Single-Gene Cause in 29.5% of Cases of Steroid-Resistant Nephrotic Syndrome". Journal of the American Society of Nephrology. 26 (6): 1279–1289. doi:10.1681/ASN.2014050489. PMC   4446877 . PMID   25349199.
  14. ↑ Braun, Daniela A.; Schueler, Markus; Halbritter, Jan; Gee, Heon Yung; Porath, Jonathan D.; Lawson, Jennifer A.; Airik, Rannar; Shril, Shirlee; Allen, Susan J.; Stein, Deborah; Al Kindy, Adila; Beck, Bodo B.; Cengiz, Nurcan; Moorani, Khemchand N.; Ozaltin, Fatih; Hashmi, Seema; Sayer, John A.; Bockenhauer, Detlef; Soliman, Neveen A.; Otto, Edgar A.; Lifton, Richard P.; Hildebrandt, Friedhelm (February 2016). "Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity". Kidney International. 89 (2): 468–475. doi:10.1038/ki.2015.317. PMC   4840095 . PMID   26489029.
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