HomeresearchCongenital Chloride Diarrhea

Congenital Chloride Diarrhea

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Research into homozygous genetic diseases with severe diarrhea brought to light a study in which the “phenotype” of the disease (= the symptoms) was completely eliminated using a simple and cheap intestinal remedy.

here is abstract

(readabilitiy improved by ChatGPT)

Background and goals: Many attempts to treat congenital chloride diarrhea and its long-term consequences have so far been unsuccessful. The molecule butyrate, a short-chain fatty acid, promotes the absorption of water and ions in the intestine through various pathways, including activation of a specific Cl-/butyrate and Na+/H+ transport mechanism.

In this report, we present the beneficial effect of butyrate on an 11-year-old patient with congenital chloride diarrhea. Methods: We monitored the effects of butyrate in escalating doses (50 to 100 mg/kg/day) by assessing daily stool volume, bowel movement frequency, bowel control, and serum and stool electrolyte concentrations. In addition, the influence of butyrate on ion transport in the intestine was examined using a rectal dialysis study.

Results: A dose of 100 mg/kg/day butyrate normalized stool pattern and serum and stool electrolyte levels. Rectal dialysis showed that butyrate promotes the absorption of sodium, chloride and potassium ions in the intestine. Butyrate treatment was well tolerated over 12 months, with stool patterns and ion concentrations remaining stable within normal limits. There were no clinical side effects or dehydration episodes requiring hospitalization.

Conclusions: Butyrate may represent an effective treatment for congenital chloride diarrhea. It is easy to use, helps prevent severe dehydration episodes and could be a promising approach for the long-term treatment of this rare and serious disease.

 

simple and cheap preparations with butyric acid

For example, for a 5 year old child you need 2 capsules, 100mg per kilo of body weight per day. Since butyric acid smells terribly like rancid butter, you cannot open the capsules.

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Sodium Butyrate 600mg (30% Buttersäure) - Butyric Acid Natriumbutyrat - 90 Vege Kapseln
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TauBiotic® von RedoxBox® – Butyrate (Tributyrin 500 mg) für Mikrobiota Nahrungsergänzungsmittel - 90 Enterische Weichkapseln
  • ✔ BUTYRATE - Butyrate wird auf natürliche Weise von nützlichen Bakterien wie Saccharomyces boulardii produziert, die...

I have now ordered all the preparations, in a few months I will adapt the article so that it becomes clear which preparation tests bioenergetically best.

 

 

What else could help?

In the case of a recessive genetic disorder, both genes are broken, which is why I wouldn’t hope for any response at all from epigenetic therapy according to Ben Lynch.

However, I had already been able to noticeably improve a child with cystic fibrosis with this therapy and also found a corresponding study in which high-dose micronutrient therapy was able to “treat away” the genetically proven cystic fibrosis in the child. I wrote an article about it.

(c) Midjourney – “child coughing – mother helps with an inhalation device”

 

how could that happen?

In the human genome, exons, i.e. the DNA sections that code for proteins or peptides, make up around 1-2% of the total DNA.

Introns, the non-coding sections of DNA inserted inside or between the exons that are removed during the splicing process, make up a significantly larger proportion of the DNA. The exact percentage may vary, but it is estimated that introns can make up more than 24% of total DNA.

However, the majority of human DNA (75%) consists of other non-coding DNA sequences, including repetitive elements and intergenic DNA.

There must be a copy of the exons in there somewhere, because in training courses I have experienced/seen several times how congenital gene defects that were clearly proven disappeared together with the disease (Klinghardt has such cases and Vijaykar also showed us videos).

what ChatGPT thinks about this idea....

The idea that “reserve copies” of exons that contribute to the improvement or disappearance of genetic diseases may exist in non-coding DNA is intriguing, but it oversimplifies the complex reality of gene regulation and genome dynamics. Although non-coding DNA plays a crucial role in regulating gene expression and can support genomic plasticity and evolutionary adaptations, direct “reserve copies” of exons in this sense are not standardly described in the scientific literature.

Non-coding DNA includes a variety of elements with regulatory functions, such as promoters, enhancers, silencers, and insulator sequences, as well as RNA genes that encode non-coding RNAs, which in turn play an important role in gene regulation. Some mechanisms by which genetic diseases might improve or disappear include:

1. **Epigenetic changes**: Modifications that do not change the DNA sequence itself, but can influence gene expression, e.g. through DNA methylation or histone modifications.

2. **Genetic compensation**: A process in which the presence of a defective gene triggers the activation of compensatory pathways that can replace the function of the defective gene or compensate for its loss.

3. **Alternative splicing**: The possibility of different mRNA molecules being created from the same pre-mRNA molecule, which can result in different protein variants. This can help compensate for mutations under certain circumstances.

4. **Genomic redundancy and duplications**: While there are cases where genes or gene fragments are duplicated and can serve as a functional reserve, this does not happen systematically for all exons or genes.

The improvement or disappearance of genetic diseases can be influenced by a variety of genetic, epigenetic and environmental factors, which collectively modulate the expression and function of genes. It remains an active area of research to fully understand the underlying mechanisms and how these processes might be modulated therapeutically.

 

Images (c) Midjourney

The AI bot produces funny pictures from my request of a “girl suffering from diarrhea who is getting an infusion in the hospital”, for example

looks like a BORG

 

The hospital here is probably in the Gaza Strip?

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