scholarly journals Tyrosinemia Type 1 – A case report

2020 ◽  
Vol 43 (3) ◽  
pp. 174-176
Author(s):  
Fahmida Islam ◽  
Wahiduzzaman Mazumder ◽  
ASM Bazlul Karim ◽  
Subir Ananda Biswas ◽  
Rafia Rashid ◽  
...  
Keyword(s):  
Liver Failure ◽  
Autosomal Recessive ◽  
Male Infant ◽  
Abdominal Distension ◽  
Inherited Metabolic Disorder ◽  
Tyrosinemia Type 1 ◽  
End Stage ◽  
Autosomal Recessive Pattern

Tyrosinemia Type 1 is a rare inherited metabolic disorder attributable to a deficiency of enzyme fumaryl acetoacetate hydrolase. It has an autosomal recessive pattern of inheritance. It often presents with liver disease or liver failure with predominant bleeding tendencies, Fanconi syndrome and or rickets with neurological crisis. Diagnosis is based on clinical features, increased tyrosine and methionine in plasma and the presence of succinylacetone in urine. Untreated patient develops liver failure, cirrhosis and hepatocellular carcinoma and end stage of renal failure. Here we describe a 9 months old infant presented with massive ascites with hepatosplenomegaly, coagulopathy and hypoalbuminemia. The diagnosis of tyrosinemia type 1 was confirmed based on clinical and biochemical findings. We highlight the need for early diagnosis and initiating treatment at the earliest which improves the quality of life in these patients. Here we report a nine month old male infant presented with abdominal distension, hepatomegaly and ascities diagnosed as Tyrosinemia Type 1. Bangladesh J Child Health 2019; VOL 43 (3) :174-176

scholarly journals Late Diagnosis of Primary Hyperoxaluria by Crystals in the Bone Marrow!

2015 ◽  
Vol 1 (1) ◽  
pp. napoc.2015.1467
Author(s):  
Mohammed Hameed ◽  
Kashif Eqbal ◽  
Beena Nair ◽  
Alexander Woywodt ◽  
Aimun Ahmed
Keyword(s):  
Autosomal Recessive ◽  
Primary Hyperoxaluria ◽  
Primary Hyperoxaluria Type 1 ◽  
Delay In Diagnosis ◽  
The Poor ◽  
Stage Renal Disease ◽  
End Stage ◽  
Glyoxylate Aminotransferase ◽  
Hyperoxaluria Type

Primary hyperoxaluria type 1 (PH1) is a rare, inherited, autosomal recessive, metabolic disorder caused by a deficiency of peroxisomal alanine-glyoxylate aminotransferase (AGT). We describe here a case of a 57-year-old man with End Stage Renal Disease, where the late age of presentation of PH T1 due to marked heterogeneity of disease expression caused a delay in diagnosis, and we discuss the causes of the poor outcome typical of this condition

scholarly journals Trends in the epidemiology of chronic kidney disease in Russian Federation according to the Federal Diabetes Register (2013–2016)

2018 ◽  
Vol 21 (3) ◽  
pp. 160-169 ◽  
Author(s):  
Minara S. Shamkhalova ◽  
Olga K. Vikulova ◽  
Anna V. Zheleznyakova ◽  
Michail A. Isakov ◽  
Marina V. Shestakova ◽  
...  
Keyword(s):  
Chronic Kidney Disease ◽  
Kidney Disease ◽  
Russian Federation ◽  
Stage Renal Disease ◽  
End Stage ◽  
Increasing Trends ◽  
Diabetes Register ◽  
Epidemiological Characteristics

BACKGROUND: Chronic kidney disease (CKD) is one of the most severe complications of diabetes mellitus (DM), this determines the importance of the study of epidemiological characteristics of the disease. AIMS: To assess the epidemiological characteristics of CKD in adult DM patients with type 1 (T1), 2 (T2) in Russian Federation in 201316. METHODS: We have used the database of the Russian Federal Diabetes register, 81st regions included in online register. Indicators were estimated per 10,000 adult DM patients (18years). RESULTS: In 2016, the CKD frequency registration was T1 23%, T2 6.9% with marked interregional differences 1.5-49.9%, 0.623.5%, respectively. The CKD prevalence in dynamics 20132016 was 2171.42303.0 in T1 and 512.687.2 in T2. The incidence of new CKD cases increased 2 times in T1 (215.5 vs 104.2), and 3.7 times in T2 (190.4 vs 51.8). The analysis of distribution by CKD stages by KDIGO indicates the increase in the proportion of patients with low and moderate cardiovascular risk and end stage renal disease (ESRD) (with the initial stages of CKD, C1/2 A1) - 12.046.8% in T1; 10.050.4% in T2. The proportion of patients with a very high risk (stages C4/5 C3aA3 and C3bA2-3) progressively decreases: 13.46.7% in T1, 11.34.4% in T2. We observed relation between the CKD prevalence and DM duration. CKD develops in 5.1% patients if T15 years and in 48.0% if T130years; in T2 3.5% and 20.3%, respectively. The average age of CKD onset in T1 increased for 4,3yr (36,140,2), in T2 for 2,4yr (64,466,8), DM duration until CKD development increased in T1 11.814.2yr, in T2 7.68.2yr. CONCLUSIONS: There is a significant improvement in the quality of CKD diagnostics at the earlier stages, older age and a longer DM duration before CKD onset in both types while we observed the increasing trends in CKD prevalence in Russian Federation in the dynamics of 2013-2016. Advances in the management of patients with DM in recent years do not reduce the risk of CKD, but give us a delay in its development. The marked interregional differences frequency of registration of CKD might indicate some remaining problems in verification in a number of regions where the standard for mandatory assessment of albuminuria and glomerular filtration rate not implemented.

scholarly journals Emotional and behavioral problems, quality of life and metabolic control in NTBC-treated Tyrosinemia type 1 patients

2019 ◽  
Vol 14 (1) ◽  
Author(s):  
Kimber van Vliet ◽  
Willem G. van Ginkel ◽  
Rianne Jahja ◽  
Anne Daly ◽  
Anita MacDonald ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Behavior Problems ◽  
Metabolic Control ◽  
Behavioral Problems ◽  
Internalizing Behavior ◽  
Fine Tuning ◽  
Emotional And Behavioral Problems ◽  
Tyrosinemia Type 1

Abstract Background Treatment with 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC) and dietary phenylalanine and tyrosine restriction improves physical health and life expectancy in Tyrosinemia type 1 (TT1). However, neurocognitive outcome is suboptimal. This study aimed to investigate behavior problems and health-related quality of life (HR-QoL) in NTBC-dietary-treated TT1 and to relate this to phenylalanine and tyrosine concentrations. Results Thirty-one TT1 patients (19 males; mean age 13.9 ± 5.3 years) were included in this study. Emotional and behavioral problems, as measured by the Achenbach System of Empirically Based Assessment, were present in almost all domains. Attention and thought problems were particularly evident. HR-QoL was assessed by the TNO AZL Children’s and Adults QoL questionnaires. Poorer HR-QoL as compared to reference populations was observed for the domains: independent daily functioning, cognitive functioning and school performance, social contacts, motor functioning, and vitality. Both internalizing and externalizing behavior problems were associated with low phenylalanine (and associated lower tyrosine) concentrations during the first year of life. In contrast, high tyrosine (and associated higher phenylalanine) concentrations during life and specifically the last year before testing were associated with more internalizing behavior and/or HR-QoL problems. Conclusions TT1 patients showed several behavior problems and a lower HR-QoL. Associations with metabolic control differed for different age periods. This suggests the need for continuous fine-tuning and monitoring of dietary treatment to keep phenylalanine and tyrosine concentrations within target ranges in NTBC-treated TT1 patients.

scholarly journals Usher Syndrome

2022 ◽  
Vol 12 (1) ◽  
pp. 42-66
Author(s):  
Alessandro Castiglione ◽  
Claes Möller
Keyword(s):  
Autosomal Recessive ◽  
Usher Syndrome ◽  
Genetic Condition ◽  
Review Reports ◽  
New Treatments ◽  
Loss Of Hearing ◽  
Type 3 ◽  
Autosomal Recessive Pattern

Usher syndrome (USH) is the most common genetic condition responsible for combined loss of hearing and vision. Balance disorders and bilateral vestibular areflexia are also observed in some cases. The syndrome was first described by Albrecht von Graefe in 1858, but later named by Charles Usher, who presented a large number of cases with hearing loss and retinopathy in 1914. USH has been grouped into three main clinical types: 1, 2, and 3, which are caused by mutations in different genes and are further divided into different subtypes. To date, nine causative genes have been identified and confirmed as responsible for the syndrome when mutated: MYO7A, USH1C, CDH23, PCDH15, and USH1G (SANS) for Usher type 1; USH2A, ADGRV1, and WHRN for Usher type 2; CLRN1 for Usher type 3. USH is inherited in an autosomal recessive pattern. Digenic, bi-allelic, and polygenic forms have also been reported, in addition to dominant or nonsyndromic forms of genetic mutations. This narrative review reports the causative forms, diagnosis, prognosis, epidemiology, rehabilitation, research, and new treatments of USH.

Tyrosinemia Type 1 Should Be Suspected in Infants With Severe Coagulopathy Even in the Absence of Other Signs of Liver Failure

PEDIATRICS ◽  
1999 ◽  
Vol 103 (3) ◽  
pp. 675-678 ◽  
Author(s):  
J. M. Croffie ◽  
S. K. Gupta ◽  
S. K. F. Chong ◽  
J. F. Fitzgerald
Keyword(s):  
Liver Failure ◽  
Tyrosinemia Type 1 ◽  
Severe Coagulopathy

scholarly journals Role of Nutrition in the Management of Hepatic Encephalopathy in End-Stage Liver Failure

2010 ◽  
Vol 2010 ◽  
pp. 1-12 ◽  
Author(s):  
Chantal Bémeur ◽  
Paul Desjardins ◽  
Roger F. Butterworth
Keyword(s):  
Hepatic Encephalopathy ◽  
Liver Failure ◽  
The Body ◽  
Significant Prognostic Factor ◽  
Protein Requirements ◽  
Patients At Risk ◽  
End Stage ◽  
Inadequate Dietary Intake

Malnutrition is common in patients with end-stage liver failure and hepatic encephalopathy, and is considered a significant prognostic factor affecting quality of life, outcome, and survival. The liver plays a crucial role in the regulation of nutrition by trafficking the metabolism of nutrients, their distribution and appropriate use by the body. Nutritional consequences with the potential to cause nervous system dysfunction occur in liver failure, and many factors contribute to malnutrition in hepatic failure. Among them are inadequate dietary intake, malabsorption, increased protein losses, hypermetabolism, insulin resistance, gastrointestinal bleeding, ascites, inflammation/infection, and hyponatremia. Patients at risk of malnutrition are relatively difficult to identify since liver disease may interfere with biomarkers of malnutrition. The supplementation of the diet with amino acids, antioxidants, vitamins as well as probiotics in addition to meeting energy and protein requirements may improve nutritional status, liver function, and hepatic encephalopathy in patients with end-stage liver failure.

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