RESUMO
Carnitine palmitoyltransferase 1A (CPT1A) deficiency is a type of fatty acid oxidation disorder in which long chain fatty acids cannot be transported into mitochondria for further processing and storage in our body. Typically, the patients present with lethargy, hypoglycemia, and raised serum transaminase levels before 2 years of age. Cholestatic jaundice as manifestation of this deficiency has been reported rarely; here, we report an adolescent male with CPT1A deficiency who developed prolonged cholestatic jaundice following a febrile illness.
RESUMO
Approximately 400 million individuals globally experience glucose-6-phosphate dehydrogenase (G6PD) insufficiency, an enzymatic condition that may be hazardous. Because of mutations in the G6PD gene, which result in functional variants alongside a variety of biochemical and clinical symptoms, this condition is an X-linked hereditary genetic disorder. Our case is that of a 12-year-old male child who presented with acute liver failure and later on, exhibited signs of hemolysis as well. We had to rule out the possibilities of acetaminophen toxicity and hepatitis A before reaching the conclusion that an underlying G6PD deficiency was being exacerbated by viral infection and simultaneous ingestion of non-steroidal anti-inflammatory drugs (NSAIDs).
RESUMO
OBJECTIVE: Vascular hyporeactivity increases with the incidence of obstructive jaundice (OJ). Evidence suggests that OJ activates the farnesoid X receptor (FXR) as well as the large-conductance Ca2+-activated K+ (BKCa or MaxiK) channel. This study was designed to explore the role of the FXR in vascular hyporesponsiveness induced by cholestasis. METHODS: The OJ model rats were constructed by bile duct ligation (BDL) and treated with an FXR agonist or antagonist. Vasoconstriction of the mesenteric arteries (MAs) was assessed in vitro. Whole-cell patch clamp recordings were used to investigate BKCa channel function. Real-time quantitative polymerase chain reaction (RT-qPCR) and Western blot were used to detect mRNA and protein levels. RESULTS: A significant increase in vascular tone and responsiveness to norepinephrine (NE) was observed after the MaxiK channel blocker (IbTX) was administered. This effect was pronounced in BDL animals and can be mimicked by the FXR agonist GW4064 and inhibited by the FXR antagonist Z-guggulsterone (Z-Gu). GW4064 has a similar effect as cholestasis in promoting MaxiK currents in isolated arterial smooth muscle cells (ASMCs), while Z-Gu blunted this effect. The mRNA and protein expression of FXR and MaxiK-ß1, but not MaxiK-α, were significantly increased in the BDL group in comparison to the sham. Furthermore, activation or inhibition of FXR promoted or inhibited the mRNA and protein expression of the MaxiK-ß1 subunit, respectively. CONCLUSION: Activation of FXR enhances the capability of the MaxiK channel to regulate vascular tone and leads to vascular hyporesponsiveness in the MAs of BDL rats, which may be mediated by the nonparallel upregulation of MaxiK-α and MaxiK-ß1 subunit expression.
RESUMO
BACKGROUND: Neonatal jaundice (NNJ) affects a significant proportion of newborns globally, with an increased burden in low-resource settings. Effective health risk management of NNJ is hindered, particularly in resource-constrained environments, where early detection and treatment are challenging. The careSTART S1 Total Bilirubin Strip, a point-of-care testing (POCT) device based on a diazo-method, offers a potential solution by enabling onsite bilirubin measurement, thus, addressing the gap in early NNJ detection and management. METHODS: The current study evaluated the analytical performance of the careSTART S1 Total Bilirubin Strip for precision, linearity, method comparison, and lot-to-lot consistency following CLSI guidelines. For method comparison, 105 residual EDTA whole blood samples were analyzed with the careSTART S1 Total Bilirubin Strip and compared with reference measurements from the Roche Cobas c702 analyzer. Additionally, statistical analyses, including Passing-Bablok regression and Bland-Altman plots, were performed. RESULTS: The careSTART S1 Total Bilirubin Strip showed allowable (<10%) within-laboratory imprecision of 2.5%-3.6% across all levels and demonstrated linearity over the range of 4.16-439.3 µmol/L. Method comparison revealed a constant negative bias with a mean bias -4.19 µmol/L. However, the 95% confidence interval (-7.10 to -1.28 µmol/L) of the bias is covered by the prespecified allowable bias of 8.3%, at medical decision point. Lot-to-lot variation ranged from 0.14%-6.49%, and was within the acceptable critical difference of 8.3%. CONCLUSION: The careSTART S1 Total Bilirubin Strip provided accurate and reliable bilirubin measurements that could contribute to neonatal care in settings lacking central laboratory facilities.
RESUMO
Introduction Obstructive jaundice due to proximal biliary obstruction presents significant diagnostic and therapeutic challenges. Accurate and timely diagnosis is essential for effective management. Objective/aim This study aimed to evaluate and compare the diagnostic accuracy of magnetic resonance cholangiopancreatography (MRCP) and percutaneous transhepatic cholangiography (PTC) along with percutaneous transhepatic biliary drainage (PTBD) stenting in obstructive jaundice, while also incorporating the comparison of ultrasonography (USG) and computed tomography (CT) findings. Materials and methods A prospective study was conducted at a tertiary healthcare center in South India from January 2020 to June 2022. Comprehensive diagnostic evaluations were performed using USG, contrast-enhanced computed tomography (CECT), MRCP, and PTC. The diagnostic outcomes from USG and CECT were initially assessed, followed by MRCP for every patient. These results were then compared with PTC, focusing on identifying the causes and levels of biliary obstruction. Results Fifty patients with suspected obstructive jaundice were included in the study. The study predominantly involved patients aged between the fourth and eighth decades (80%). Choledocholithiasis was identified as the leading cause (30%). MRCP demonstrated superior sensitivity in identifying both the cause (80%) and level (88%) of obstruction. It was particularly effective in detecting hilar masses with 100% sensitivity. Conversely, PTC, while less sensitive in detection, offered the advantage of simultaneous therapeutic intervention through stenting, with a sensitivity rate of 93% in detecting hilar masses. Conclusion MRCP outperforms PTC in diagnostic sensitivity for obstructive jaundice caused by proximal biliary obstruction. However, the advantage of PTC lies in its capacity for immediate therapeutic intervention via stent placement, addressing both diagnostic and treatment needs.
RESUMO
Choledochal cyst is a congenital pathology with an uncommon anomaly associated with common complaints of an abdominal lump and hepatic dysfunction. It may be presented equally in any phase of life, be it childhood, adolescence, or adulthood, and is majorly detected by ultrasonography (USG) on the appearance of primary symptoms in the hepato-biliary system. It has a classical triad consisting of a lump in the upper quadrant on the right side of the abdomen, pain in the upper part of the abdomen, and obstructive jaundice. A few of the clinical features overlap with sickle cell disease. A 30-year-old male patient with sickle cell anemia was diagnosed eight years ago. The patient was diagnosed with a choledochal cyst with the clinical presentation of abdominal pain, nausea, and vomiting, which hampered his routine life. Due to symptomatic recurrence, the patient was subjected to USG (abdomen), which showed a dilated common bile duct (CBD) and dilated intrahepatic biliary radicals. This is a rare case presentation with both sickle cell disease and choledochal cyst, which are symptomatically similar. Based on history, risk factor analysis, and diagnostic findings, the patient was advised to have a Roux-en-Y hepatico-jejunostomy. Endoscopic retrograde cholangiopancreatography (ERCP) and magnetic resonance cholangiopancreatography (MRCP) are the investigations of choice, with the better being MRCP. ERCP is a therapeutic and diagnostic modality that helps in the removal of CBD calculus and the placement of a stent. There may be increased bilirubin, showing features of obstructive jaundice in alcoholic stools. In surgical management, which is of total excision of the cyst, there are vital structures in proximity. The patients with these complaints need to be evaluated thoroughly, and detailed clinical examination and proper radiological investigations will be performed. Roux-en-Y hepatico-jejunostomy with cyst excision in toto is the procedure of choice.
RESUMO
Scrub typhus is caused by Orientia tsutsugamushi, a Gram-negative coccobacillus. It comprises three strains: Karp, Gilliam, and Kato. Cases of scrub typhus are usually found in the Asia-Pacific region, and their presentation may range from minimal symptoms to multi-organ involvement, with or without the presence of an eschar mark. Varying manifestations of scrub typhus, such as gangrene, meningoencephalitis, anemia with jaundice, and hematuria, have been observed. In the Kumaun region of northern India, there has been a surge in the number of scrub typhus cases. Typically, this disease is accompanied by an eschar mark, but occasionally it can manifest without one. We report a series of four cases presenting with various unusual symptoms such as gangrene of the limbs, meningoencephalitis, jaundice, and hematuria. Serology for scrub typhus should be considered in all patients with acute febrile illness not responding to treatment, especially in mountainous regions, to prevent the associated mortality.
RESUMO
Foreign bodies are a rare cause of obstructive jaundice. In this case report, we present the case of a 59-year-old male who presented with abdominal pain and obstructive jaundice, which was later found out to be caused by an impacted shrapnel splinter in the common bile duct 7 years after a combat injury. To our knowledge, this is the first documented case from Syria. This case report is a reminder that impacted foreign bodies should be considered as a potential cause of obstructive jaundice in patients with previous combat injury.
RESUMO
Obstructive jaundice occurs when an obstruction in the bile duct system prevents bile from flowing from the liver into the intestine, accumulating bilirubin in the blood. This condition can result from various causes, including gallstones, tumors, or inflammation of the bile ducts. The management of obstructive jaundice depends on the underlying cause (malignant obstructions such as cholangiocarcinoma or pancreatic cancer), indicating the need for surgical intervention. The Whipple procedure (pancreaticoduodenectomy) is the standard curative approach for resectable distal common bile duct (CBD) adenocarcinoma. Doctors usually recommend adjuvant chemotherapy to reduce the risk of recurrence. We report the case of a 70-year-old male with a history of untreated hypertension, type 2 diabetes, and long-term smoking, who presented with classic signs of obstructive jaundice, including yellowing of the eyes, itching, right upper quadrant pain, and intermittent fevers. Laboratory findings revealed elevated inflammatory markers, bilirubin, liver enzymes, and leukocyte count, indicative of an inflammatory and obstructive biliary condition. Imaging studies confirmed a distal CBD stricture, including abdominal ultrasound, computed tomography scans, and endoscopic retrograde cholangiopancreatography (ERCP). Brush cytology obtained during ERCP revealed a well-differentiated adenocarcinoma of the distal CBD. The patient's treatment plan included preoperative optimization, surgical resection via the Whipple procedure, and postoperative adjuvant therapy. This case emphasizes the importance of a thorough diagnostic workup and a multidisciplinary treatment strategy in managing complex cases of obstructive jaundice in the elderly, highlighting the need for personalized care to achieve optimal outcomes.
RESUMO
Early identification of neonatal jaundice (NJ) appears to be essential to avoid bilirubin encephalopathy and neurological sequelae. The interaction between gut microbiota and metabolites plays an important role in early life. It is unclear whether the composition of the gut microbiota and metabolites can be used as an early indicator of NJ or to aid clinical decision-making. This study involved a total of 196 neonates and conducted two rounds of "discovery-validation" research on the gut microbiome-metabolome. It utilized methods of machine learning, causal inference, and clinical prediction model evaluation to assess the significance of gut microbiota and metabolites in classifying neonatal jaundice (NJ), as well as the potential causal relationships between corresponding clinical variables and NJ. In the discovery stage, NJ-associated gut microbiota, network modules, and metabolite composition were identified by gut microbiome-metabolome association analysis. The NJ-associated gut microbiota was closely related to bile acid metabolites. By Lasso machine learning assessment, we found that the gut bacteria were associated with abnormal bile acid metabolism. The machine learning-causal inference approach revealed that gut bacteria affected serum total bilirubin and NJ by influencing bile acid metabolism. NJ-associated gut bile acids are potential biomarkers of NJ, and clinical prediction models constructed based on these biomarkers have some clinical effects and the model may be used for disease risk prediction. In the validation stage, it was found that intestinal metabolites can predict NJ, and the machine learning-causal inference approach revealed that bile acid metabolites affected NJ itself by affecting the total bilirubin content. Intestinal bile acid metabolites are potential biomarkers of NJ. By applying machine learning-causal inference methods to gut microbiome-metabolome association studies, we found NJ-associated intestinal bacteria and their network modules and bile acid metabolite composition. The important role of intestinal bacteria and bile acid metabolites in NJ was determined, which can predict the risk of NJ.
Association analysis of the intestinal microbiome-metabolome found that neonatal jaundice (NJ)-related intestinal microbiota, network modules and metabolite composition, and the intestinal microbiota are closely related to bile acid metabolites.Gut bacteria were found to affect serum total bilirubin (TBIL) and NJ by influencing bile acid metabolism through a machine learning-causal inference approach, and bile acid metabolites affected NJ itself by affecting the TBIL content.NJ-associated gut bacteria and bile acids are potential biomarkers of NJ, and clinical decision-making models based on these biomarkers have some clinical effects for disease risk prediction.
Assuntos
Bactérias , Ácidos e Sais Biliares , Microbioma Gastrointestinal , Icterícia Neonatal , Aprendizado de Máquina , Humanos , Recém-Nascido , Ácidos e Sais Biliares/metabolismo , Bactérias/classificação , Bactérias/metabolismo , Bactérias/isolamento & purificação , Bactérias/genética , Icterícia Neonatal/metabolismo , Icterícia Neonatal/microbiologia , Feminino , Masculino , Biomarcadores/metabolismo , Metaboloma , Bilirrubina/metabolismo , Bilirrubina/sangue , Metabolômica/métodos , MultiômicaRESUMO
BACKGROUND: Whether endobiliary radiofrequency ablation (EB-RFA) changes the standard role of stent placement in treating unresectable malignant biliary obstruction (MBO) remains unclear. The aim of this study is to compare percutaneous EB-RFA and metal stent placement (RFA-Stent) with metal stent placement alone (Stent) in treating unresectable MBO using a propensity score matching (PSM) analysis. METHODS: From June 2013 to June 2018, clinical data from 163 patients with malignant biliary obstruction who underwent percutaneous RFA-Stent or stenting alone were retrospectively analyzed using a nearest-neighbor algorithm to one-to-one PSM analysis to compare primary and secondary stent patency (PSP, SSP), overall survival (OS) and complications between the two groups. RESULTS: Before matching, for whole patients, RFA-Stent resulted in longer median PSP (8.0 vs. 5.1 months, P = 0.003), SSP (9.8 vs. 5.1 months, P < 0.001) and OS (7.0 vs. 4.5 months, P = 0.034) than the Stent group. After matching (54 pairs), RFA-Stent also resulted in better median PSP (8.5 vs. 5.1 months, P < 0.001), SSP (11.0 vs. 6.0 months, P < 0.001), and OS (8.0 vs. 4.0 months, P = 0.007) than Stent. RFA-Stent was comparable with Stent for complication rates. In Cox analysis, RFA-Stent modality and serum total bilirubin level were independent prognostic factors for PSP. RFA-Stent modality, performance status score and combination therapy after stent were independent prognostic factors for OS. CONCLUSION: Percutaneous RFA-Stent was superior to Stent in terms of PSP, SSP, and OS in selected patients with unresectable MBO.
Assuntos
Colestase , Pontuação de Propensão , Ablação por Radiofrequência , Stents , Humanos , Estudos Retrospectivos , Masculino , Feminino , Idoso , Colestase/etiologia , Colestase/cirurgia , Ablação por Radiofrequência/métodos , Pessoa de Meia-Idade , Neoplasias dos Ductos Biliares/complicações , Neoplasias dos Ductos Biliares/cirurgia , Resultado do Tratamento , Idoso de 80 Anos ou maisRESUMO
Attention-Deficit/Hyperactivity Disorder (ADHD), a prevalent childhood neurodevelopmental disorder with complex etiology involving genetic and environmental factors, causes impairments across various life domains and substantial social and economic burden. Identifying correlates to prevent its onset and decrease its incidence is crucial. To our knowledge, our study represents the first case-control investigation of Lebanese ADHD patients to explore potential correlations between familial, maternal, and child health variables and ADHD to enhance understanding of its etiology and aid in prevention efforts. We recruited 61 Lebanese ADHD patients and 58 matched controls aged 6-24 years from all districts of Lebanon. The data to analyze were collected using a questionnaire. We employed statistical tests, including the independent samples t-test and the Chi-square test or Fisher's exact test. We conducted a multivariate logistic regression analysis to identify the statistically significant factors explaining ADHD likelihood. We observed male predominance (68.9%) among patients. Maternal anemia during pregnancy (OR = 3.654; 95% CI [1.158-11.529]), maternal self-reported stress during pregnancy (OR = 3.268; 95% CI [1.263-8.456]), neonatal jaundice (OR = 5.020; 95% CI [1.438-17.532]), and familial history of ADHD (OR = 12.033; 95% CI [2.950-49.072]) were significantly associated with increased odds of the disorder. On the other hand, breastfeeding (OR = 0.263; 95% CI [0.092-0.757]) was identified as a protective factor against ADHD. This pilot study shed light on risk and protective factors associated with ADHD in the Lebanese population. The results are relevant, as some identified correlates could be avoidable. Further rigorous investigation is required to expand upon the observed correlations and to assist in early detection, prevention, and intervention strategies targeting ADHD.
Assuntos
Transtorno do Deficit de Atenção com Hiperatividade , Humanos , Transtorno do Deficit de Atenção com Hiperatividade/epidemiologia , Líbano/epidemiologia , Feminino , Masculino , Adolescente , Criança , Estudos de Casos e Controles , Adulto Jovem , Fatores de Risco , GravidezRESUMO
Jaundice is a symptom of high blood bilirubin levels affecting about 80% of neonates. In neonates fed with breast milk, jaundice is particularly prevalent and severe, which is likely multifactorial. With the development of genomics and metagenomics, a deeper understanding of the neonatal gut microbiota has been achieved. We find there are accumulating evidence to indicate the importance of the gut microbiota in the mechanism of jaundice. In this paper, we present new comprehensive insight into the relationship between the microbiota and jaundice. In the new perspective, the gut is a crucial crossroad of bilirubin excretion, and bacteria colonizing the gut could play different roles in the excretion of bilirubin, including Escherichia coli as the main traffic jam causers, some Clostridium and Bacteroides strains as the traffic police, and most probiotic Bifidobacterium and Lactobacillus strains as bystanders with no effect or only a secondary indirect effect on the metabolism of bilirubin. This insight could explain why breast milk jaundice causes a longer duration of blood bilirubin and why most probiotics have limited effects on neonatal jaundice. With the encouragement of breastmilk feeding, our perspective could guide the development of new therapy methods to prevent this side effect of breastfeeding.
Assuntos
Bilirrubina , Microbioma Gastrointestinal , Icterícia Neonatal , Probióticos , Humanos , Icterícia Neonatal/terapia , Icterícia Neonatal/microbiologia , Icterícia Neonatal/etiologia , Recém-Nascido , Bilirrubina/metabolismo , Bilirrubina/sangue , Aleitamento Materno , Leite Humano/microbiologia , Leite Humano/metabolismoRESUMO
PURPOSE: Early diagnosis of biliary atresia (BA) is critical for best outcomes, but is challenged by overlapping clinical manifestations with other causes of obstructive jaundice in neonates. We evaluate the performance of the modified Simple BA Scoring System (SBASS) in diagnosing BA. METHODS: We performed a prospective, cross-sectional study on infants with cholestatic jaundice (June 2021-December 2022). Modified SBASS scoring was applied and compared to the eventual diagnosis (as per intraoperative cholangiogram (IOC) and liver histopathology). The score (0-6), consists of gall bladder length < 1.6 cm (+ 1), presence of triangular cord sign (+ 1), conjugated bilirubin:total bilirubin ratio > 0.7(+ 2), gamma-glutamyl transferase (GGT) ≥ 200 U/L (+ 2). RESULTS: 73 were included: Fifty-two (71%) had BA. In the non-BA group, 6 (28%) had percutaneous cholangiography (PTC) while 15 (72%) had intraoperative cholangiogram (IOC). At a cut-off of 3, the modified SBASS showed sensitivity of 96.2%, specificity of 61.9% and overall accuracy of 86.3% in diagnosing BA. Area under receiver operating characteristic curve was 0.901. GGT had the highest sensitivity (94.2%), while triangular cord sign showed the highest specificity at 95.2%. CONCLUSION: The SBASS provides a bedside, non-invasive scoring system for exclusion of BA in infantile cholestatic jaundice and reduces the likelihood of negative surgical explorations.
Assuntos
Atresia Biliar , Humanos , Atresia Biliar/diagnóstico , Atresia Biliar/cirurgia , Atresia Biliar/complicações , Estudos Prospectivos , Estudos Transversais , Feminino , Masculino , Recém-Nascido , Icterícia Obstrutiva/etiologia , Icterícia Obstrutiva/diagnóstico , Lactente , Colangiografia/métodos , Sensibilidade e Especificidade , gama-Glutamiltransferase/sangue , Diagnóstico PrecoceRESUMO
Previous investigations on the impact of oral zinc sulfate treatment on newborns' serum bilirubin levels have produced conflicting results. As a result, the goal of this clinical study was to evaluate how oral zinc sulfate affected the levels of serum bilirubin in term infants who were admitted to the neonatal intensive care unit. The study was conducted at the Neonatal Care Unit of Besat Hospital in Sanandaj, Kurdistan Province, as a double-blind randomized controlled trial. The participants included term infants (37-42 weeks of gestation) who required phototherapy and were admitted to the neonatal intensive care unit. A total of 290 infants were enrolled and randomly divided into two groups. The intervention group received oral zinc sulfate supplementation at a dosage of 1 mg/kg per day in addition to phototherapy, while the placebo group received an equivalent amount of placebo daily. Bilirubin measurements were obtained at the initiation of the intervention and subsequently every 24 h until discharge. The collected data were analyzed using STATA software version 17. After the infants were randomly allocated to the zinc-sulfate and placebo groups, the study outcomes, including the average changes in bilirubin levels after intervention, the hours of phototherapy, and the number of days of hospitalization, were analyzed and compared for a total of 160 infants in the zinc sulfate group and 130 infants in the placebo group. The reduction in bilirubin levels in infants receiving zinc sulfate was (- 3.75 ± 0.19 CI 95% - 4.12, - 3.37) and for placebo group was (- 1.81 ± 0.15 CI 95% - 2.12, - 1.50) 24 h after the intervention. Furthermore, 48 and 72 h following the intervention, bilirubin levels in the intervention group demonstrated a more substantial decline. The zinc sulfate group had a shorter hospital stay (2.13 ± 0.04 vs. 2.83 ± 1.42) and required less phototherapy hours than the placebo group (6.21 ± 2.16 vs. 8.78 ± 1.40). Conclusions: Oral zinc sulfate supplementation in term neonates with hyperbilirubinemia decreased the level of bilirubin levels, duration of phototherapy, and hospital stay. Trial registration: IRCT, IRCT20220806055625N1. Study Registered 25 December 2022, http://irct.ir/trial/66,722 .
RESUMO
Background: This study sought to understand community health workers' (CHW) knowledge and perceptions of community beliefs surrounding neonatal jaundice (NNJ), a treatable but potentially fatal condition prevalent in sub-Saharan Africa. Methods: In this cross-sectional qualitative study, CHWs in Kumasi, Ghana, completed in-depth interviews with trained research assistants using a semi-structured interview guide. Interviews were audiotaped, transcribed verbatim, and analyzed using grounded theory methodology. Results: Knowledge of NNJ varied widely among the 23 respondents: 74% knew NNJ could cause death, 57% knew how to screen for NNJ. 35% of CHWs favored home treatment (sunlight therapy or watchful waiting). Three main themes emerged: CHWs perceived that caregivers prefer home treatment, equating hospital care with death; sunlight and herbs are the most common home treatments; and caregivers attribute NNJ to supernatural causes, delaying jaundice diagnosis. Interpretation: Incomplete understanding of NNJ among trained CHWs and local communities will require improved education among both groups to improve outcomes.
RESUMO
Background: Dubin-Johnson Syndrome (DJS) is a rare autosomal recessive genetic disorder, with most cases presenting in adolescence, but rare in newborns. Objective: To investigate the clinical characteristics and treatment outcomes of DJS in a newborn. Methods: We present the clinical features of a newborn diagnosed with DJS through molecular genetic testing. Results: The patient was a male newborn who developed jaundice and scleral icterus on the 6th day of life. Both direct and indirect bilirubin levels were elevated. After treatment with phototherapy, indirect bilirubin levels decreased, but direct bilirubin remained unchanged, and the stool color gradually lightened. At 56 days of age, the patient underwent laparoscopic cholecystostomy, which revealed viscous bile plugs in the bile ducts. Following the surgery, the patient received oral ursodeoxycholic acid, compound glycyrrhizin, and methylprednisolone. Follow-up until one year post-surgery showed a gradual reduction in direct bilirubin levels to the normal range. Molecular genetic testing revealed three heterozygous mutations in the ABCC2 gene on chromosome 10, with one pathogenic variant inherited from the father and two from the mother, confirming the diagnosis of DJS. Conclusion: DJS is a benign condition with a favorable prognosis. In newborns, it should be differentiated from other causes of cholestasis, and compared to cholestasis, jaundice in newborns with DJS responds more slowly to treatment.
RESUMO
BACKGROUND: Hemolytic disease of fetus and newborn is a major risk factor for anemia and hyperbilirubinemia in newborns. Early identification and diagnosis can significantly improve neonatal health. CASE REPORT: This report documents a case of hemolytic disease of fetus and newborn presenting as persistent neonatal anemia requiring frequent transfusion support. The underlying cause was determined to be the passive acquisition of hemolytic alloantibodies (anti-c) via breast milk. CONCLUSION: Importance of antenatal screening for red cell antibodies is gradually being recognized and adopted in developing countries to minimize the burden of HDFN. Breast milk should be considered as a potential source of hemolysing alloantibodies in newborns and may require evaluation in mothers with alloantibodies in her serum.