scholarly journals APRT deficiency: the need for early diagnosis

2018 ◽  
pp. bcr-2018-225742
Author(s):  
Aamira Huq ◽  
Kushma Nand ◽  
Rajiv Juneja ◽  
Ingrid Winship
Keyword(s):  
Early Diagnosis ◽  
Autosomal Recessive ◽  
Rare Condition ◽  
Autosomal Recessive Disorder ◽  
Signs And Symptoms ◽  
Kidney Donation ◽  
Shortness Of Breath ◽  
Adenine Phosphoribosyltransferase ◽  
Poorly Soluble ◽  
Aprt Deficiency

Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive disorder which leads to accumulation of poorly soluble 2,8-dihydroxyadenine in kidneys resulting in nephrolithiasis as well as chronic kidney disease from crystal nephropathy. This report describes a 55-year-old previously fit man who presented with shortness of breath and the investigative pathway that eventually led to a diagnosis of APRT deficiency. Early diagnosis has aided in timely institution of allopurinol, thereby improving his renal function and possibility of weaning off renal replacement therapy. Genetic testing has enabled early identification of other family members at risk and prevention of renal failure by commencing xanthine oxidoreductase (XOR) inhibitors. The issues surrounding kidney donation by a member of this family are also discussed. This case represents the importance of awareness and recognition of the signs and symptoms of this rare condition, complications of which can be easily prevented by early institution of XOR inhibitor therapy.

scholarly journals Cardiovascular involvement in alpha-n-acetyl neuraminidase deficiency syndromes (sialidosis type I and II)

2021 ◽  
pp. 1-3
Author(s):  
Priyanka Prasanna ◽  
Chenni S. Sriram ◽  
Sarah H. Rodriguez ◽  
Utkarsh Kohli
Keyword(s):  
Autosomal Recessive ◽  
Ventricular Dysfunction ◽  
Clinical Presentation ◽  
Clinical Course ◽  
Rare Condition ◽  
Autosomal Recessive Disorder ◽  
Left Ventricular ◽  
Type I ◽  
Neonatal Onset ◽  
Cardiovascular Involvement

Abstract Sialidosis, a rare autosomal recessive disorder, is caused by a deficiency of NEU1 encoded enzyme alpha-N-acetyl neuraminidase. We report a premature male with neonatal-onset type II sialidosis which was associated with left ventricular dysfunction. The clinical presentation and subsequent progression which culminated in his untimely death at 16 months of age are succinctly described. Early-onset cardiovascular involvement as noted in this patient is not well characterised. The case report is supplemented by a comprehensive review of the determinants, characteristics, and the clinical course of cardiovascular involvement in this rare condition.

scholarly journals Allele frequency of variants reported to cause adenine phosphoribosyltransferase deficiency

2021 ◽  
Author(s):  
Hrafnhildur L. Runolfsdottir ◽  
John A. Sayer ◽  
Olafur S. Indridason ◽  
Vidar O. Edvardsson ◽  
Brynjar O. Jensson ◽  
...  
Keyword(s):  
Allele Frequency ◽  
Autosomal Recessive Disorder ◽  
European Population ◽  
Adenine Phosphoribosyltransferase ◽  
Genomic Databases ◽  
Pathogenic Variants ◽  
Adenine Phosphoribosyltransferase Deficiency ◽  
Variation Database ◽  
The Uk ◽  
Aprt Deficiency

AbstractAdenine phosphoribosyltransferase deficiency is a rare, autosomal recessive disorder of purine metabolism that causes nephrolithiasis and progressive chronic kidney disease. The small number of reported cases indicates an extremely low prevalence, although it has been suggested that missed diagnoses may play a role. We assessed the prevalence of APRT deficiency based on the frequency of causally-related APRT sequence variants in a diverse set of large genomic databases. A thorough search was carried out for all APRT variants that have been confirmed as pathogenic under recessive mode of inheritance, and the frequency of the identified variants examined in six population genomic databases: the deCODE genetics database, the UK Biobank, the 100,000 Genomes Project, the Genome Aggregation Database, the Human Genetic Variation Database and the Korean Variant Archive. The estimated frequency of homozygous genotypes was calculated using the Hardy-Weinberg equation. Sixty-two pathogenic APRT variants were identified, including six novel variants. Most common were the missense variants c.407T>C (p.(Met136Thr)) in Japan and c.194A>T (p.(Asp65Val)) in Iceland, as well as the splice-site variant c.400 + 2dup (p.(Ala108Glufs*3)) in the European population. Twenty-nine variants were detected in at least one of the six genomic databases. The highest cumulative minor allele frequency (cMAF) of pathogenic variants outside of Japan and Iceland was observed in the Irish population (0.2%), though no APRT deficiency cases have been reported in Ireland. The large number of cases in Japan and Iceland is consistent with a founder effect in these populations. There is no evidence for widespread underdiagnosis based on the current analysis.

scholarly journals NECROSE CUTANEE REVELANT UN DEFICIT CONGENITAL EN PROTEINE C : A PROPOS DE 3 CAS

2021 ◽  
Vol 9 (03) ◽  
pp. 80-83
Author(s):  
S. Halouani ◽  
◽  
W. Kojmane ◽  
F. Hmami ◽  
S. Atmani ◽  
...  
Keyword(s):  
Early Diagnosis ◽  
Replacement Therapy ◽  
Disseminated Intravascular Coagulation ◽  
Skin Necrosis ◽  
Protein C ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Protein C Deficiency ◽  
Neonatal Skin ◽  
Protein C Activity

Neonatal skin necrosis in the context of a congenital homozygous protein C deficiency is a rare inherited autosomal recessive disorder, it is characterized by rapidly extensive necrotic patches occurring a few hours after birth in a newborn who doesnt present any hemodynamic disorder. The diagnosis is based on the assay of protein C activity which is collapsed or even undetectable. Early diagnosis and replacement therapy are the mainstays of management before the onset of disseminated intravascular coagulation. We report three cases of newborns presenting with DIC in the context of protein C deficiency and the course of which was fatal.

scholarly journals Angiosarcoma of the Auricle in a Patient with Xeroderma Pigmentosum Variant

2020 ◽  
Vol 12 (2) ◽  
pp. 144-149
Author(s):  
Masazumi Onishi ◽  
Kanako Tsunoda ◽  
Fumihiko Maeda ◽  
Shinichi Moriwaki ◽  
Hiroo Amano
Keyword(s):  
Xeroderma Pigmentosum ◽  
Autosomal Recessive ◽  
Rare Condition ◽  
Autosomal Recessive Disorder ◽  
Skin Neoplasms ◽  
The Sun ◽  
Physical Stimulation ◽  
Increased Risk ◽  
Old Japanese

Xeroderma pigmentosum (XP) is an inherited autosomal recessive disorder characterized by photosensitivity and an increased risk of developing multiple skin neoplasms at sites exposed to the sun. We report a 73-year-old Japanese man with angiosarcoma of the auricle and an XP-variant, which is a very rare condition. In this case, long-term physical stimulation due to auricular deformation after surgery may have been the cause. Angiosarcoma associated with XP has a better prognosis than common angiosarcoma, perhaps because of the smaller tumor size. As XP patients are at high risk of skin neoplasms, they consult dermatologists regularly, and therefore skin tumors are likely to be detected early.

An Unusual Course of a 2,8-Dihydroxyadeninuria Crystalline Nephropathy Secondary to Adenine Phosphoribosyltransferase Deficiency

Nephron ◽  
2021 ◽  
pp. 1-5
Author(s):  
Nicole Nourié ◽  
Hussein Nassereddine ◽  
Hiba Azar
Keyword(s):  
Genetic Disease ◽  
Autosomal Recessive ◽  
Middle Eastern ◽  
Disease Recurrence ◽  
Gene Variant ◽  
Adenine Phosphoribosyltransferase ◽  
Aprt Gene ◽  
Appropriate Therapy ◽  
Late Stages ◽  
Aprt Deficiency

Adenine phosphoribosyltransferase (APRT) deficiency is a rare disorder caused by an autosomal recessive genetic disease leading to the deposition of 2,8-dihydroxyadenine (2,8-DHA) in the kidney. The disease remains under-recognized, oftentimes diagnosed in late stages of renal insufficiency or a failed kidney allograft with biopsy-proven disease recurrence. Here, we present the case of a 59-year-old middle eastern male patient diagnosed with 2,8-DHA nephropathy after a very unusual presentation, and we show how the initiation of an appropriate therapy slowed down his evolution toward kidney replacement therapies. His disease was found to be secondary to a specific APRT gene variant c.188G>A p (Gly63Asp) also described in 4 other patients, all from middle eastern origins.

scholarly journals Ellis-van Creveld Syndrome: Mutations Uncovered in Lebanese Families

2015 ◽  
Vol 2015 ◽  
pp. 1-4
Author(s):  
Maria Valencia ◽  
Lara Tabet ◽  
Nadine Yazbeck ◽  
Alia Araj ◽  
Victor L. Ruiz-Perez ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Early Diagnosis ◽  
Autosomal Recessive ◽  
Medical Literature ◽  
Autosomal Recessive Disorder ◽  
Case Presentation ◽  
Homozygous Mutations ◽  
Ellis Van Creveld Syndrome ◽  
First Time

Background. Ellis-van Creveld (EvC) syndrome is a rare, autosomal recessive disorder characterized by short stature, short limbs, growth retardation, polydactyly, and ectodermal defects with cardiac anomalies occurring in around 60% of cases. EVC syndrome has been linked to mutations inEVCandEVC2genes.Case Presentation. We report EvC syndrome in two unrelated Lebanese families both having homozygous mutations in theEVC2gene, c.2653C>T (p.(Arg885*)) and c.2012_2015del (p.(Leu671*)) in exons 15 and 13, respectively, with the latter being reported for the first time.Conclusion. Although EvC has been largely described in the medical literature, clinical features of this syndrome vary. While more research is required to explore other genes involved in EvC, early diagnosis and therapeutic care are important to achieve a better quality of life.

scholarly journals Doss Porphyria (δ-Aminolevulinic Acid Dehydratase Porphyria) Presenting with Acute Onset Flaccid Paralysis

2016 ◽  
Vol 35 (3) ◽  
pp. 280-282
Author(s):  
Sandip Kumar Singh ◽  
Eva Gauchan ◽  
Deepak Prasad Koirala ◽  
KS Rao
Keyword(s):  
Early Diagnosis ◽  
Autosomal Recessive ◽  
Aminolevulinic Acid ◽  
Autosomal Recessive Disorder ◽  
Acute Onset ◽  
Motor Neuropathy ◽  
Prompt Treatment ◽  
Heme Synthesis ◽  
Acid Dehydratase ◽  
Bulbar Paralysis

δ–Aminolevulinic acid dehydratase porphyria is an autosomal recessive disorder of heme synthesis resulting from deficiency of δ-aminolevulinic acid dehydratase (ALAD). Patients present with fatal neurovisceral manifestations and motor neuropathy. Here we report a patient with rapidly progressive flaccid tetraplegia with respiratory and bulbar paralysis. The importance of early diagnosis, prompt treatment and screening of relatives is stressed.J Nepal Paediatr Soc 2015;35(3):280-282

scholarly journals Enteroendocrine Dysfunction in Two Saudi Sisters

2021 ◽  
pp. 290-295
Author(s):  
Amna Basheer M. Ahmed ◽  
Badr M. Rasheed Alsaleem
Keyword(s):  
Early Diagnosis ◽  
Effective Treatment ◽  
Early Onset ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Proprotein Convertase ◽  
Whole Exome ◽  
Osmotic Diarrhea ◽  
Symptoms And Signs

Proprotein convertase (PC) deficiency is a rare autosomal recessive disorder caused by mutations in proprotein convertase subtilisin/kexin type 1 (PCSK1). It is characterized by severe malabsorptive early-onset diarrhea, obesity, and systemic endocrinopathies. Only few cases have been reported in the literature; we have add two female sisters with some difference in clinical progress. Herein, we describe two sisters with congenital osmotic diarrhea diagnosed with PC1/3 deficiency, causing malabsorptive diarrhea and enteroendocrine dysfunction, who presented with chronic enteropathy with hypernatremia but with different expressivity. PC1/3 deficiency presents with symptoms and signs that mimic glucose-galactose malabsorption. Because of the clinical paucity and heterogeneity of congenital enteropathies, whole-exome sequencing may be of great help towards early diagnosis and effective treatment.

Triple A syndrome: a case report

2020 ◽  
pp. 004947552096194
Author(s):  
Piyush Manoria
Keyword(s):  
Case Report ◽  
Early Diagnosis ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Morbidity And Mortality ◽  
Adrenal Failure ◽  
Triple A Syndrome ◽  
Rare Autosomal Recessive Disorder ◽  
High Degree

Triple A syndrome is a rare autosomal recessive disorder characterised by alacrimia, achalasia and adrenal failure. It was first reported by Allgrove in 1978 and 100 cases have been reported worldwide. This case report concerns a 24-year-old woman who was referred for evaluation of dysphagia and was finally diagnosed as such a case. A high degree of suspicion enables all the components of this syndrome to be searched for, as early diagnosis can reduce the morbidity and mortality.

scholarly journals An unusual presentation of biotinidase deficiency in infant: High anion gap metabolic acidosis

2021 ◽  
Vol 36 ◽  
pp. 57-59
Author(s):  
Pooja Shashidhar Wali ◽  
Preetham Tauro ◽  
Pavan Hegde ◽  
Habeeb Ullah Khan ◽  
M. D Jaidev
Keyword(s):  
Metabolic Acidosis ◽  
Early Diagnosis ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Biotinidase Deficiency ◽  
Unusual Presentation ◽  
Anion Gap ◽  
Morbidity And Mortality ◽  
Infantile Seizures

Biotinidase deficiency (BTD) is hereditary autosomal recessive disorder with higher morbidity and mortality if left untreated. We report this case to increase awareness about BTD, presenting with infantile seizures, encephalopathy with high anion gap metabolic acidosis, eczema and to emphasize the importance of early diagnosis in reversal of metabolic acidosis and seizures refractory to multiple anticonvulsants with biotin replacement.

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