ARC syndrome with complex renal problems: Nephrocalcinosis, proximal and hyperkalemic distal RTA and nephrogenic diabetes insipidus

Malaki, Majid; Mandana, Rafeei; Ghaffari, Shamsi

doi:10.4103/1319-2442.98165

Cited by 12 publications

(16 citation statements)

References 0 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…There are also two case reports of NDI associated with ARC syndrome (20,43), but detailed data on urine and plasma osmolalities to support this diagnosis were not provided.…”

Section: Inherited Diseases Associated With Sndimentioning

confidence: 99%

Inherited secondary nephrogenic diabetes insipidus: concentrating on humans

Böckenhauer

Bichet

2013

American Journal of Physiology-Renal Physiology

View full text Add to dashboard Cite

The study of human physiology is paramount to understanding disease and developing rational and targeted treatments. Conversely, the study of human disease can teach us a lot about physiology. Investigations into primary inherited nephrogenic diabetes insipidus (NDI) have contributed enormously to our understanding of the mechanisms of urinary concentration and identified the vasopressin receptor AVPR2, as well as the water channel aquaporin-2 (AQP2), as key players in water reabsorption in the collecting duct. Yet, there are also secondary forms of NDI, for instance as a complication of lithium treatment. The focus of this review is secondary NDI associated with inherited human diseases, such as Bartter syndrome or apparent mineralocorticoid excess. Currently, the underlying pathophysiology of this inherited secondary NDI is unclear, but there appears to be true AQP2 deficiency. To better understand the underlying mechanism(s), collaboration between clinical and experimental physiologists is essential to further investigate these observations in appropriate experimental models.

show abstract

“…There are also two case reports of NDI associated with ARC syndrome (20,43), but detailed data on urine and plasma osmolalities to support this diagnosis were not provided.…”

Section: Inherited Diseases Associated With Sndimentioning

confidence: 99%

Inherited secondary nephrogenic diabetes insipidus: concentrating on humans

Böckenhauer

Bichet

2013

American Journal of Physiology-Renal Physiology

View full text Add to dashboard Cite

show abstract

“…Arthrogryposis-Renal dysfunction-Cholestasis (ARC) syndrome is a lethal, autosomal recessive, multisystemic disorder [1]. It not so rare syndrome rather underdiagnosed due to wide phenotypic variability of the syndrome [2,3]. Our case apart from cardinal features also had seborrheic dermatitis, scalp hypotrichosis and choroidal sclerosis as associated features.…”

Section: Introductionmentioning

confidence: 86%

Arthrogryposis, Renal Dysfunction, Cholestasis Syndrome with Scalp Hypotrichosis

Ahmed¹,

Save²,

Mantri³

2016

JCR

View full text Add to dashboard Cite

Arthrogryposis, renal dysfunction, cholestasis syndrome is an inherited disorder which involves multiple organs, with presentation evolving along the course of the disease. Two month old female child presented with three cardinal features, arthrogryposis, renal tubular acidosis and cholestasis, along with failure to thrive, giant platelets and paucity of bile ducts on histopathology of liver. Our child also had choroidal sclerosis and scalp hypotrichosis with seborrheic dermatitis. We are reporting this case to focus on wide range of associated manifestations, early detection, optimum management and genetic counselling in view poor prognosis.

show abstract

“…The pathogenesis characteristic of ARC syndrome primarily involved degeneration of the anterior motor neurons, whereas the severity of arthrogryposis may be traced to placental insufficiency during pregnancy, with oligohydramnios in the mother and foetal growth restriction. Osteopenia and pathological fractures are attributable to impaired renal tubular reabsorption and secondary hyperparathyroidism [114]. Renal tubular dysfunction manifests in the form of Fanconi syndrome, renal tubular acidosis, nephrogenic diabetes insipidus, glucosuria, aminoaciduria, and phosphaturia [114].…”

Section: Arthrogryposis Renal Dysfunction Cholestasis (Arc)mentioning

confidence: 99%

“…Osteopenia and pathological fractures are attributable to impaired renal tubular reabsorption and secondary hyperparathyroidism [114]. Renal tubular dysfunction manifests in the form of Fanconi syndrome, renal tubular acidosis, nephrogenic diabetes insipidus, glucosuria, aminoaciduria, and phosphaturia [114]. In the absence of biliary obstruction, patients with hepatomegaly and NC with low GGT levels and normal or slightly elevated liver enzymes are characteristic of ARC.…”

Section: Arthrogryposis Renal Dysfunction Cholestasis (Arc)mentioning

confidence: 99%

Neonatal cholestasis: recent insights

Ghazy

Khedr

2019

Egypt Pediatric Association Gaz

View full text Add to dashboard Cite

Background: Neonatal physiological jaundice is a common benign condition that rarely extends behind the second week of life; however, it may interfere with the diagnosis of a pathological condition termed neonatal cholestasis (NC). The latter is a critical, uncommon problem characterized by conjugated hyperbilirubinaemia. This review aims to highlight the differences between physiological and pathological jaundice, identify different causes of NC, and provide a recent approach to diagnosis and management of this serious condition. Main text: NC affects 1/2500 live births, resulting in life-threatening complications due to associated hepatobiliary or metabolic abnormalities. NC is rarely benign and indicates the presence of severe underlying disease. If jaundice extends more than 14 days in full-term infants or 21 days in preterm infants, the serum bilirubin level fractionated into conjugated (direct) and unconjugated (indirect) bilirubin should be measured. A stepwise diagnostic approach starts with obtaining a complete history, and a physical examination which are valuable for the rapid diagnosis of the underlying disease. The most frequently diagnosed causes of NC are biliary atresia (BA) and idiopathic neonatal hepatitis (INH). The early diagnosis of NC ensures more accurate management and better prognosis. Despite the unavailability of any specific treatments for some causes of NC, the patient can benefit from nutritional management and early medical intervention. Future research should attempt to shed light on methods of screening for NC, especially for causes that can be effectively treated either through proper nutritional support, appropriate chemotherapeutic management, or timely surgical intervention. Conclusion: Further attention should be paid for diagnosis and treatment of NC as it may be misdiagnosed as physiological jaundice; this may delay the proper management of the underlying diseases and aggravates its complications.

show abstract

ARC syndrome with complex renal problems: Nephrocalcinosis, proximal and hyperkalemic distal RTA and nephrogenic diabetes insipidus

Cited by 12 publications

References 0 publications

Inherited secondary nephrogenic diabetes insipidus: concentrating on humans

Inherited secondary nephrogenic diabetes insipidus: concentrating on humans

Arthrogryposis, Renal Dysfunction, Cholestasis Syndrome with Scalp Hypotrichosis

Neonatal cholestasis: recent insights

Contact Info

Product

Resources

About