The presentation of neonatal cholestatic jaundice in ARC syndrome is distinct from the other clinical presentations of neonatal cholestatic jaundice; patients who have ARC syndrome and develop neonatal cholestatic jaundice typically present with no biliary [ncbi.nlm.nih.gov]

• Sepsis

  […] characteristics Classical clinical feature Arthrogryposis Renal tubular dysfunction Neonatal cholestatic jaundice Additional clinical feature Ichthyosis Platelet abnormality Agenesis of the corpus callosum Congenital cardiovascular anomalies Deafness Recurrent sepsis [ncbi.nlm.nih.gov]

• Internal Bleeding

  bleeding owing to coagulation dysfunction (see Table 1). [ncbi.nlm.nih.gov]

• Recurrent Infection

  Moreover, patients with ARC syndrome primarily have recurrent episodes of secondary infection coupled with hyperpyrexia and chronic diarrhea, although their immunological profiles are found to be within normal limits. [ncbi.nlm.nih.gov]

• Turkish

  (Met1Arg) Turkish [4] VIPAR_00021 6 c.463_464del Het p.(Trp155Glufs*4) Caucasian [14] VIPAR_00022 6 c.484C > T Het p.(Arg162*) Caucasian [14] VIPAR_00002 7 c.535C > T Hom p.(Gln179*) Turkish [4] VIPAR_00023 9 c.638 T > C Het p. [ncbi.nlm.nih.gov]

• Fracture

  In case of osteopenia and fractures with arthrogryposis at birth, it is also suggested that ARC syndrome should be included in the differential diagnosis. [ncbi.nlm.nih.gov]

• Osteopenia

  In case of osteopenia and fractures with arthrogryposis at birth, it is also suggested that ARC syndrome should be included in the differential diagnosis. [ncbi.nlm.nih.gov]

(Gln425*) Turkish [4] Diagnostic clues and workup In general, case reports of patients with ARC syndrome are not uncommon in Saudi Arabia and Pakistan, where rates of consanguinity are high, whereas several sporadic case studies have been reported in [ncbi.nlm.nih.gov]

Treatment Liver transplantation is the best treatment for HRS but may not be an option for people with HRS-1 who are too sick for the operation. [liverfoundation.org]

Conclusion No specific treatment currently exists for ARC syndrome. [ncbi.nlm.nih.gov]

Other options for people who are unable to get a transplant or who are awaiting one include: Vasoconstrictive agents to increase blood pressure that is too low Albumin to improve renal function Prognosis for Anyone Living with HRS The prognosis for people [liverfoundation.org]

As a lethal multisystem disorder, prognosis of ARC syndrome is particularly poor. [ncbi.nlm.nih.gov]

Genetic background To gain an insight into worldwide genetic epidemiology and provide easy access to updated resources for researchers and clinicians, a Leiden Open-Source Variation Database (LOVD) for ARC (https://grenada.lumc.nl/LOVD2/ARC) was established [ncbi.nlm.nih.gov]

[…] between the expressed mutant protein and the SNARE protein at the late endosomal stage may be impeded and lead to abnormal localization or accumulation of plasma proteins in polarized cells, providing partial insights into the nature of the molecular pathophysiology [ncbi.nlm.nih.gov]

If you have cirrhosis, the following will be important to prevent HRS: Avoid nonsteroidal anti-inflammatory drugs (NSAIDs). [liverfoundation.org]