Daniel Hoffman

Daniel Hoffman

Friday, 11 January 2019 19:59

New Bartter Syndrome Awareness Hoodies

New arrivals to show your support and advocacy for Bartter Syndrome. Hoodies are Gildan Heavy Blend™ 8 oz., 50/50 Hood. 50% cotton, 50% polyester. Pill-resistant air jet yarn. Double-needle stitching throughout. Double-lined hood. 1×1 ribbed cuffs and waistband with spandex. Pouch pocket. Matching drawstring


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Objective: To investigate the phenotype-genotype correlation in different genetic kinds of Bartter syndrome type 3 in children.

Methods: Clinical and genetic data of 2 patients with different mutations in Bartter syndrome type 3 was analyzed while the prognosis was compared after a 6-year follow-up or 2-year follow-up, respectively.

Results: Bartter syndrome is a kind of autosomal recessive inherited renal disorder. The manifestation and prognosis of Bartter syndrome change with mutation types, and severe mutation were often accompanied with unfavorable prognosis. Comprehensive therapy with ibuprofen, antisterone, captopril, and potassium have remarkable effect, while ibuprofen may improve growth retardation partly.

Conclusion: Bartter syndrome should be considered when children have unreasonable continuous electrolyte disturbance, metabolic alkalosis and growth retardation.As a genetic disease, its clinical features depend on the mutation type. It can be ameliorated by electrolyte supplementation, prostaglandin synthetase inhibitors, angiotensin-converting enzyme inhibitors and potassium-sparing diuretic. Considering the following electrolyte disturbances, infections, growth retardation, kidney failure and even death, Bartter syndrome need lifelong treatment, early diagnosis and treatment is the most important.



Friday, 05 January 2018 14:41

Rare Disease Day 2019

There has been great progress in rare disease research, in big part thanks to the advocacy work of the rare disease patient community. Patients are already participating in research. And in some cases patients have taken the reins themselves to fund their own research.

However, the fact remains that there are over 6000 rare diseases, an estimated 30 million people living with a rare disease in Europe and 300 million worldwide, but no cures and few treatments available for the majority of these diseases.

To help change this, patient involvement in research needs to be taken to the next level.

Rare Disease Day 2019 offers participants the opportunity to be part of a global call on policy makers, researchers, companies and healthcare professionals to increasingly and more effectively involve patients in rare disease research.

Great efforts are being made to take rare disease research to an international level. Only by doing so can we guarantee rare disease research will be truly effective. In turn, this will contribute to increased and faster diagnosis of rare diseases and therefore reduce the number of people around the world who face the daily challenge of living with an undiagnosed rare disease. 

Friday, 05 January 2018 14:06

Pathogenesis of Bartter's Syndrome

In a patient with Bartter's syndrome (increased plasma renin, juxtaglomerular-cell hyperplasia, hyperaldosteronism and hypokalemia, but no hypertension), aldosterone excretion and secretion were increased only moderately despite marked elevation of plasma renin, presumably because of suppression of aldosterone production by hypokalemia. When the serum potassium was raised by administration of potassium chloride and spironolactone, while normal sodium balance was maintained, aldosterone excretion rose markedly. Infusion of albumin decreased plasma renin and aldosterone secretion, and restored normal sensitivity to the pressor effect of exogenous angiotensin. Suppression of aldosterone production to normal limits by administration of albumin, amino-glutethimide or dexamethasone failed to correct the hypokalemia, indicating that some factor other than hyperaldosteronism may contribute to urinary potassium wastage in this syndrome. This study and others raise the possibility that in some patients with Bartter's syndrome the primary defect is impairment of proximal sodium reabsorption.

Wednesday, 01 February 2017 11:16

Differences Between Bartter & Gitelman Syndrome

Sodium chloride, better known as salt, is vital for the organism, and the kidneys play a crucial role in the regulation of sodium balance. However, the underlying mechanisms of sodium balance are not yet completely understood. Researchers of the Max Delbr-ck Center for Molecular Medicine (MDC) Berlin-Buch, Charit- - Universit-tsmedizin Berlin and the University of Kiel have now deciphered the function of a gene in the kidney and have thus gained new insights into this complex regulation process (PNAS Early Edition, doi/10.1073/pnas.1203834109).

In humans, the kidneys filter around 1700 liters of blood every day, of which 180 liters are collected as primary urine and ultimately one to two liters of urine are excreted. The kidneys thus wash toxic waste products out of the body, but retain some useful substances and reintroduce them into the body, thus simultaneously regulating the salt and water balance.

Tuesday, 20 December 2016 05:18

Kasich Signs Six Bills

COLUMBUS – Today Governor John R. Kasich signed the following bills into law:

  • H.B. 166 (Green) extends the deadline for filing an application for the homestead exemption or 2 1/2% property tax rollback to the end of the tax year, to require that auditors certify Local Government Fund allocations to subdivisions by regular or electronic mail, rather than certified, to require that notices of appeal from a decision of the Board of Tax Appeals originating with a county board of revision be filed with that board and the county auditor, to clarify the effect of certain certifications related to the repealed personal property tax, and to repeal laws requiring county auditors to issue permits for traveling shows, issue licenses for new merchandise public auctions, certify the annual state tax interest rate to local courts.
  • Am. Sub. H.B. 173 (Anielski, Terhar) authorizes a county recorder or county veterans service office, with the approval of the board of county commissioners, to issue Ohio veterans identification cards.
  • Sub. H.B. 200 (Hagan) is regarding procuring, storing, and accessing epinephrine auto-injectors for which there are no patient-specific prescriptions and civil immunity of health professionals.
  • Sub. HB 359 (Duffey, Gonzales) creates an address confidentiality program for victims of domestic violence, menacing by stalking, human trafficking, trafficking in persons, rape, or sexual battery and allows wireless service account transfer in a domestic violence situation.
  • H.B. 523 (Huffman) authorizes the use of marijuana for medical purposes and establishes the Medical Marijuana Control Program.
  • S.B. 128 (Cafaro, Schiavoni) designates the thirtieth day of May as "Bartter Syndrome Awareness Day."

COLUMBUS - Yesterday, Senator Joe Schiavoni (D-Boardman) and Senator Capri S. Cafaro (D-Hubbard) introduced S.B. 128, which would designate May 30th as Bartter Syndrome Awareness Day. The Senate passed S.B. 128 with unanimous support.

“Bartter Syndrome is not well known, which often means those suffering from it wait far too long for the right diagnosis,” said Senator Schiavoni. “Raising awareness could help save families from years of pain and frustration as they search for answers.”

Bartter Syndrome is a rare, inherited series of closely related renal tubular disorders that cause the kidneys to remove too much potassium from the body. Individuals with this disease also lose an excess of sodium and chloride. There are five different types of Bartter Syndrome.

Washington, D.C. – Congressman Tim Ryan (D-OH) and Congressman David Joyce (R-OH) today introduced a resolution to designate each May 30th as National Bartter Syndrome Day. This designation would give much needed attention and increase awareness for the one million people worldwide affected by Bartter Syndrome and their families working though the difficulties associated with this little known disease. Bartter Syndrome is a group of very similar kidney disorders that cause an imbalance of potassium, sodium, chloride, and other molecules in the body. This legislation was inspired by 12 year old Ethan Hoffman from Warren, Ohio who suffers from Bartter Syndrome and with his family, has met with Congressman Ryan to brief him on the importance of increasing awareness for this disease.

Wednesday, 17 February 2016 22:25

Ohio Rare Disease Day 2016

Created by Ethan Hoffman

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