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Arthrogryposis–renal dysfunction–cholestasis (ARC) syndrome: from molecular genetics to clinical features
Yaoyao Zhou and Junfeng Zhang*
Corresponding author:
Department of Cardiology, No. 3 People’s Hospital, Shanghai Jiao Tong University School of Medicine, No. 280, Mohe Road, Baoshan District, Shanghai, 201900, China
For all author emails, please .
Italian Journal of Pediatrics 2014, 40:77&
doi:10.-014-0077-3
The electronic version of this article is the complete one and can be found online at:
Received:23 April 2014
Accepted:1 September 2014
Published:20 September 2014
& 2014 Zhou and Z licensee BioMed Central Ltd.
This is an Open Access article distributed under the terms of the Creative Commons Attribution License (), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome is a rare but fatal autosomal
recessive multisystem disorder caused by mutations in the VPS33B or VIPAR gene. The classical presentation of ARC includes congenital joint contractures, renal
tubular dysfunction, and cholestasis. Additional features include ichthyosis, central
nervous system malformation, platelet anomalies, and severe failure to thrive. Diagnosis
of ARC syndrome relies on clinical features, organ biopsy, and mutational analysis.
However, no specific treatment currently exists for this syndrome.
Conclusion
This is an overview of the latest knowledge regarding the genetic features and clinical
manifestations of ARC syndrome. Greater awareness and understanding of this syndrome
should allow more timely intervention with potential for improving long-term outcome.
Keywords: ARC A C R VPS33B; VIPAR1
“What is known - what is new” (Authors’ summary)
Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome (MIM 208085), caused by
mutations in the VPS33B or VIPAR gene, is a rare autosomal recessive multisystem disorder involving the liver, kidney,
skin, and central nervous and musculoskeletal systems. In general, case reports of
patients with ARC syndrome are not uncommon in Saudi Arabia and Pakistan, along with
several sporadic cases all around the world. To help clinicians raise awareness of
general clinical picture of ARC syndrome, we comprehensively characterize its major
clinical presentation, namely, arthrogryposis, renal dysfunction, cholestasis, and
other associated features.
Though a Leiden Open-Source Variation Database (LOVD) for ARC has been established
by collating all relevant published variants observed in VPS33B and VIPAR, further
analysis is still in urgent need to highlight variants that have been classified as
“pathogenic” worldwide, and ultimately facilitate accurately counseling and improved
disease management. Thus, we compile a total of 49 pathogenic VPS33B mutations and 14 pathogenic VIPAR mutations listed in the ARC-LOVD database to date.
All in all, this article focuses on the latest knowledge regarding both clinical and
genetic features of ARC syndrome and discusses appropriate diagnosis and available
treatment option currently, which gives clinicians an insight in children at risk
of dying from this severe disease. Moreover, it still stands in need of future attempts
at gene therapy for improvements in managing or even curing ARC syndrome.
Introduction
Arthrogryposis–renal dysfunction–cholestasis (ARC) syndrome (MIM 208085) is a rare
autosomal recessive disorder, which was first recognized in the offspring of a consanguineous
marriage in 1973 []. As a fatal multisystem disorder, an affected child would present a series of clinical
features in musculoskeletal systems, kidney, liver, and central nervous at birth.
The characteristic features of ARC syndrome include arthrogryposis, renal tubular
acidosis, and neonatal cholestatic jaundice (see Figure&) []. These features are sometimes accompanied by additional presentations, including
ichthyosis (~50%), platelet anomalies (~25%), agenesis of the corpus callosum (&20%),
congenital cardiovascular anomalies (~10%), deafness, recurrent infection, and internal
bleeding owing to coagulation dysfunction (see Table&). The laboratory investigations and biopsy findings of liver or kidney could contribute
to further evaluation and confirmation of ARC syndrome. Still, it may be very likely
that mild or atypical symptoms at birth and during the first few weeks would lead
to ignorance, misdiagnose and delayed treatment of this life-threating disorder. Consequently,
the prognosis of ARC syndrome is so poor that the majority of patients fail to survive
beyond the first year of life [],[].
An infant with ARC syndrome showing arthrogryposis and ichthyotic skin. (Reproduction permission of John Wiley and Sons License, Number: 7).
Clinical characteristics of patients with ARC syndrome
The locus of this disorder has been mapped to chromosome 5q26.1, and germline mutations
have been identified in vacuolar protein sorting 33 homolog B (VPS33B; MIM 608552) and VPS33B-interacting protein, apical–basolateral polarity regulator
(VIPAR; MIM 613401) [],[],[]. VPS33B encodes a 617-amino-acid protein that is a homolog of yeast Vps33p, a class C vacuolar
protein sorting (vps) protein. Vps33p, along with other class C vps proteins, comprise
the two multiprotein complexes, homotypic protein sorting (HOPS) and class C core
vacuole/endosome tethering (CORVET), to play an essential role in intracellular vesicular
trafficking pathways []. VPS33B is a member of the Sec1/Munc18 family proteins, which interact with soluble
NSF attachment protein receptors (SNAREs). SNAREs are involved in a variety of processes—including
vesicular exocytosis, synaptic transmission, and general secretion—by facilitating
vesicle targeting and fusion []. Once mutations develop in the human VPS33B gene, the interaction 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 of ARC syndrome.
VPS33B mutations are detectable in approximately 75% of patients with a clinical diagnosis
of ARC syndrome []. Apart from locus heterogeneity or failure to detect mutation by direct sequencing
analysis, another causative gene of the ARC syndrome, VIPAR (also called C14ORF133), was subsequently identified by combining functional and
genetic approaches []. VIPAR consists of a golgin A5 domain and shares significant homology with the C-terminal
region of Vps16, which exhibits pleiotropic effects in polarity and apical membrane
protein restriction through the formation of VPS33B-VIPAR complexes []. The role of VPS33B-VIPAR complexes are suggested to involve the RAB11A-dependent
apical recycling pathway and transcriptional regulation of adherent proteins such
as E-cadherin, which ensures normal cellular structure with apical basolateral polarity
[]. It is noteworthy that further research has confirmed the role of epidermal growth
factor (EGF) stimulation in the interactions between SPE-39—the Caenorhabditis elegans ortholog of VIPAR—and Vps33B by tyrosine phosphorylation and ubiquitination of SPE-39
[]-[]. Alternatively, the apical membrane protein was observed to be misrecruited to basolateral
membranes and into the late endosomes and lysosomes in knockdown/knockout studies
of VPS33B or VIPAR[]. Subsequently, abnormal organelle biogenesis may hinder the generation and maintenance
of tissue structures, such as bile ducts and renal tubules, ultimately resulting in
cholestasis and abnormal urine. These proteins are found at various locations throughout
the body, including the skeletal muscles, kidneys, liver, skin, heart, lungs, and
brain, which explains the multisystemic symptoms that are characteristic of the ARC
clinical phenotype [],[],[].
Clinical presentation of ARC syndrome
3.1 Arthrogryposis
Arthrogryposis is a primary symptom of ARC syndrome and presents with a spectrum of
manifestations, including muscle atrophy, radial deviation of the wrist, dislocation
of both hip joints, flexion contracture of the knee joints, and calcaneovalgus []. Musculoskeletal abnormalities observed during the first few weeks of life are not
generally evident—or perhaps they are simply absent or atypical in certain instances
of VPS33B mutations, such as 971delA/K324fs [],[]. The pathogenesis characteristic of ARC syndrome is primarily degeneration of anterior
motor neurons, whereas the severity of arthrogryposis may be traced to placental insufficiency
during pregnancy with oligohydramnios in the mother and growth restriction of the
fetus. In addition, osteopenia and pathological fractures in ARC syndrome are related
to impaired reabsorption linked to renal tubular and secondary hyperparathyroidism.
Nevertheless, fractures and osteopenia are due to decreased or absent fetal movements
in other kind of congenital arthrogryposis such as Bruck syndrome []. In case of osteopenia and fractures with arthrogryposis at birth, it is also suggested
that ARC syndrome should be included in the differential diagnosis. Especial attention
should be paid to the patients associated with other clinical features, such as renal
tubular dysfunction, and cholestasis.
3.2 Renal tubular dysfunction
Renal tubular dysfunction manifests in the form of Fanconi syndrome, with symptoms
including renal tubular acidosis, nephrogenic diabetes insipidus, glucosuria, aminoaciduria,
and phosphaturia [],[]. During episodes of intercurrent illness, renal tubular acidosis may be notably exacerbated,
which is symptomatic of renal tubular calcification and degeneration. Renal ultrasonography
may be suggestive of nephrocalcinosis or a small dysplastic kidney, accompanied by
inflammatory reaction of the renal interstitium and focus, sclerosis of some glomeruli,
and tubular distortion and degeneration, per the results of renal biopsy [],[].
3.3 Neonatal cholestatic jaundice
The third primary feature of ARC syndrome is neonatal cholestatic jaundice, concurrent
with hepatomegaly, which is the most common characteristic of ARC syndrome. The presentation
of neonatal cholestatic jaundice in ARC syndrome is distinct from the other clinical
presentations of neonatal
patients who have ARC syndrome and
develop neonatal cholestatic jaundice typically present with no biliary obstruction,
have consistently low γ-glutamyl transpeptidase (γGT) levels, and have normal or slightly
elevated aspartate aminotransferase (AST) and alanine aminotransferase (ALT) levels,
although they have jaundice and liver cell dysfunction []. Indeed, it is well accepted that low GGT cholestasis is a differential feature of
ARC syndrome. It is even recommended that patients with low-GGT conjugated hyperbilirubinemia
associated with ichthyosis, deafness, platelet dysfunction and central nervous system
malformation should be related to VPS33B disease [].Furthermore, liver biopsies suggest signs of paucity of bile ducts, giant cell transformation,
bile plug or lipofuscin deposition, and portal fibrosis in these cases, which could
exclude biliary atresia specifically [],[],[].
3.4 Other associated features of ARC syndrome
Additional clinical symptoms of ARC syndrome principally include ichthyosis, abnormal
platelet count and function, secondary infection, and cardiovascular anomalies [],[]. Most patients are affected with ichthyosis (a heterogeneous family of skin disorders)
stemming from defects in the SNARE protein, which participates in secretion and function
in epidermal cohesion and waterproofing of lamellar granules [],[]. Despite the fact that abnormal lamellar granule secretion exist in both ARC syndrome
and cerebral dysgenesis–neuropathy–ichthyosis–keratoderma (CEDNIK) syndrome, lamellar
granule internal structure is normal in ARC syndrome while it is abnormal in CEDNIK
syndrome. An additional cause of ichthyosis in ARC syndrome is the lack of absorption
of free fatty acids, which are critical for epidermal differentiation []. Furthermore, skin biopsy may indicate the presence of mild hyperkeratosis without
parakeratosis. Self-limiting intra-abdominal hemorrhage often occurs in patients with
ARC, in the absence of abnormal therefore, normal routine platelet
analysis cannot assess the risk of bleeding in ARC syndrome []. Despite the increased number of β-granules, similar to Grey platelet syndrome, platelets
from patients with ARC syndrome develop abnormal biosynthesis and function of α-granules,
which are essential for platelet aggregation, thrombogenesis, inflammation, and tumorigenesis
[],[]. Studies have demonstrated that a VPS33B-VPS16B complex participates in α-granule
formation, since this complex was tracked with transport vesicles destined toward
the development of mature α-granules [],[]. 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. It has been recently demonstrated that
a profound defect in phagosome-lysosome fusion caused by Vps16B/Vps33B dysfunction
may render patients with ARC syndrome increasingly sensitive to infections by nonpathogenic
microbes []. Interestingly, bacterial endocarditis subject to recurrent infection has also been
reported to originate from congenital cardiovascular anomalies, other than the structural
abnormalities caused by defects in vesicular trafficking [].
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 ( ) was established in 2011 by collating all relevant published variants observed in
VPS33B and VIPAR[]. As for March 2014, this online locus-specific ARC database has compiled a total
of 299 unique variants in VPS33B and 34 unique variants in VIPAR, of which sequence mutations are basically classified as “pathogenic,” “probably pathogenic,”
“no known pathogenicity,” “probably no pathogenicity,” and “effect unknown,” according
to their projected effect on the protein and the clinical phenotype. To date, the
database includes 49 published variants in VPS33B and 14 published variants in VIPAR worldwide that have been classified as “pathogenic.” Regarding VPS33B, most identified variants were substitutions (n = 34; 19 splice site, 13 nonsense,
and two missense mutations), apart from deletions (n = 11), duplications (n = 2),
insertions (n = 1), and indels (n = 1). It is noteworthy that three variants were
prominent on account of their relative prevalence: c.403 + 2&T & A, c.1312C & T, and
c.1519C & T (see Table&). Most “pathogenic” variants in VIPAR are substitutions (n = 11; 8 nonsense, two missense, and one splice site mutation).
Additionally, two deletions were present, of which two recurrent variants existed:
c.658C & T and c.808C & T (see Table&). This information is available in the ARC–LOVD database to inform clinicians and
patient families on current prognoses, advances, and clinical course of ARC pathogenesis,
ultimately contributing to accurately counseling and improved disease management.
PathogenicVPS33Bmutations listed in the ARC-LOVD database
PathogenicVIPARmutations listed in ARC-LOVD database
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 Turkey, North Africa, Italy, Portugal, and Asia [],[]-[]. Despite these reports, the prevalence of ARC syndrome has not been accurately defined
and is subject to potential underestimation because of lack of a broad clinical picture
and of early recognition of this rare disease. It is worth mentioning that the relative
incidence rate ratio of ARC was suggested to be 1/7 that of biliary atresia in 90
patients with neonatal cholestasis (95% CI 0.33 ~ 0.06) [],[],[].
ARC syndrome is a life-threatening autosomal recessive multisystem disorder, and its
early diagnosis is of vital importance for the development of an appropriate therapeutic
regimen. Currently, clinical diagnosis of ARC syndrome consists of identifying the
triad conditions of arthrogryposis, renal tubular acidosis, and neonatal cholestatic
jaundice with low γGT activity, combined with pathologic confirmation. However, the
majority of patients are vulnerable to in other words, kidney
or liver biopsies result in a risk of fatal bleeding (&50%). Still, similar clinical
and laboratory findings could be observed both in ARC syndrome and progressive familial
intrahepatic cholestasis. Therefore, clinical presentations along with VPS33B and VIPAR sequencing analyses constitute an apparently safer diagnostic procedure. Currently,
there are limitations in mutational analysis, such as the long duration required for
analysis and the potential for false negatives, analysis of VPS33B protein expression
in skin fibroblasts and platelet morphology in peripheral blood smears are two alternative
techniques that have been proposed as valuable tools for diagnostic screening examinations
Treatment options and prognosis
No specific treatment for ARC syndr rather, supportive care—including
fluid infusion, anti-infection, supplement with ursodeoxycholic acid, fat-soluble
vitamins, calcium glubionate, L-thyroxine and phosphate—is administered to patients
for improving the quality of life. Nevertheless, some patients with joint contractures,
congenital hip dislocation, and vertical talus are in need of immediate orthopedic
intervention due to delayed diagnosis. Nevertheless, aggressive orthopedic management
is still not recommended, since poor general status and low survival rates may affect
the outcome of the surgery []. In cases of ARC syndrome that failed to respond to medical therapy, it is also advisable
to consider liver transplant to ameliorate severe cholestasis and intractable pruritus.
It is reported that an Iranian boy underwent a liver transplant have made a recovery.
Specifically, the pruritus immediately improved after the surgery, and his scaly skin
was also normal in 6&months. Moreover, the patient stayed in good condition without
any complications or rejection during more than 5&years’ follow-up [].
As a lethal multisystem disorder, prognosis of ARC syndrome is particularly poor.
Most patients succumb within the first year of life after developing recurrent infection,
severe hydropenia, acidosis, or internal hemorrhaging, except for a few patients who
have ARC syndrome but retain partial function of VPS33B[].
Conclusion
No specific treatment currently exists for ARC syndrome. Comprehensive analysis of
family history, classical clinical presentations, biopsy of the liver or kidney, and/or
genetic mutational analysis may not only facilitate accurate diagnosis and the development
of appropriately tailored treatment at an early stage but also provide genetic counseling
and prenatal or preimplantation genetic diagnosis for the affected families. With
the continued progress of molecular genetics and medical technologies, future attempts
at gene therapy may yield improvements in managing or even curing ARC syndrome.
7.1 Consent
Written informed consent was obtained from the patient’s guardian/parent/next of kin
for the publication of this report and any accompanying images.
Abbreviations
ALT: alanine aminotransferase
AST: Aspartate aminotransferase
ARC: ARTHROGRYPOSIS-renal dysfunction-cholestasis
CEDNIK: Cerebral dysgenesis–neuropathy–ichthyosis–keratoderma
CORVET: Class C core vacuole/endosome tethering
EGF: Epidermal growth factor
γGT: γ-Glutamyl transpeptidase
HOPS: Homotypic protein sorting
LOVD: Leiden open-source variation database
SNAREs: Soluble NSF attachment protein receptors
VPS33B: Vacuolar protein sorting 33 homolog B
VIPAR: VPS33B-interacting protein, apical–basolateral polarity regulator
Competing interests
The authors declare that they have no competing interests.
Authors’ contributions
YZ participated in the design and draft of the manuscript. JZ was involved in designing
and revising the manuscript critically for important intellectual content. Both authors
read and approved the final manuscript.
Acknowledgements
We gratefully acknowledge the project supported by No. 3 People’s Hospital affiliated
to Shanghai Jiao Tong University School of Medicine (syz, to Dr. Zhang).
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