Congenital Deficiency Research Articles

Perioperative management for patient with congenital factor VII deficiency who underwent laparoscopic cholecystectomy: Case report.

Introduction and importanceIn patients with congenital factor VII (FVII) deficiency, perioperative bleeding events are concern, so recombinant activated factor VII (rFVIIa) is favorably used, but the optimal dosage regimen has not clearly established. We report management of a patient with congenital FVII deficiency who underwent laparoscopic cholecystectomy.Case presentationA 70-year-male with congenital FVII deficiency was diagnosed as acute cholecystitis, so we planned laparoscopic cholecystectomy. FVII activity and prothrombin time international normalized ratio (PT-INR) were intraoperatively monitored as scheduled. At the start of surgery, FVII activity was 3.1% (75–130%) and PT-INR was 3.37 (0.8–1.2), so 1 mg of rFVIIa was administered. Both of these values then improved to 325.0% and 0.73, respectively. Laparoscopic cholecystectomy was successfully completed without unexpected bleeding or oozing. When FVII activity and PT-INR was re-checked 6 h after the first administration of rFVIIa, these values were 23.9% and 1.53, respectively. Additional 1 mg of rFVIIa was used only once after the operation. The patient was discharged on the sixth day after surgery without postoperative complication.Clinical discussionIn this case, rFVIIa was used just twice and there were no bleeding events during the perioperative period. Previous reports suggested using 15–30 μg/kg of rFVIIa before surgery and subsequent every 4–6 h in the first 24 h, then increasing the interval to 8–12 h. It is necessary to evaluate optimal dose of rFVIIa based on the risk and surgical invasiveness for each case.ConclusionOur patient with congenital FVII deficiency uneventfully underwent laparoscopic cholecystectomy.

The most common disease-causing mutation of factor XIII deficiency is corrected by CRISPR/CAS9 gene editing system.

Factor XIII (FXIII) deficiency is one of the most severe congenital bleeding disorders, with an estimated incidence of one person per one million. Patients with severe FXIII deficiency present a wide range of clinical manifestations, including umbilical cord bleeding, intracranial haemorrhage and recurrent miscarriages. Due to the high rate of life-threatening bleeding, primary prophylaxis is mandatory from the time of diagnosis. Although replacement therapy is the most common therapeutic choice, gene therapy remains the only curative option. In the present study, we assessed the efficacy of the clustered regularly interspaced short palindromic repeats - CRISPR-associated protein 9 (CRISPR/Cas9) system in the correction of the most common FXIII disease-causing mutation (c.562 T > C). A dermal fibroblast was harvested from the human skin biopsy of a young patient with FXIII deficiency. Sanger sequencing was used to confirm the presence of c.562 T>C mutation in the patient and in the harvested fibroblasts. PX459 vector was digested with BbsI restriction enzyme, and after annealing and ligation of two 20-bp guide-RNAs (g-RNAs) close to the PAM (NGG) sequence, the constructed vectors were amplified in Escherichia coli Top 10. Transfection was performed by a nucleofector device, and DNA extraction was performed after puromycin selection and serial dilution from potentially transfected colonies. A 50-bp template oligonucleotide was used to aid homologous repair for correction of the underlying mutation and synonymous mutation as an internal control. The synonymous mutation (AAT to ACT) near the mutation site was used as internal control. Sanger sequencing was done in order to check the gene correction. The c.562 T > C mutation was detected in homozygote state in the primary fibroblasts of the patient and wild-type alleles were confirmed in the normal individual. Colony PCR and sequencing revealed successful cloning of the designed gRNAs. The detected mutation was corrected from a homozygote mutant state (c.562 T > C) to a homozygote wild type in transfected dermal fibroblasts of the patient. The control mutation, as an internal control, was also corrected in the same fibroblasts in the heterozygote manner. The result of the study shows that the CRISPR/CAS9 gene editing system is an effective tool for correction of point mutations in transfected fibroblasts of patients with congenital FXIII deficiency and represents a new, potentially curative, option.

Impact and interactions between risk factors on the iron status of at-risk neonates.

Examine interactions between perinatal risk factors for congenital iron deficiency (ID) using two cohorts. Iron status in a composite 767-member cord blood cohort and a NICU cohort of 257 infants < 33 weeks of gestation or small for gestational age (SGA). Risks for ID were examined. Cord ferritin levels < 84 µg/L defined congenital ID. Serum ferritin < 70 µg/L defined infantile ID at one-month. 31% of the cord cohort had congenital ID; risks summative (p < 0.0015). 16% of the NICU cohort had infantile ID; risks not summative. However, 32% had ID if the ferritin threshold was 100 µg/L. Being both preterm (p < 0.0001) and SGA (p < 0.05) negatively impacted cord iron status. Maternal hypertension was a novel predictor of iron status (p = 0.023 in preterm cord; p < 0.0025 in NICU). Summing risks in term and understanding compounding risks in preterm infants can improve screening and management of ID in at-risk infants.

Left ventricular rotational abnormalities in hemophilia-insights from the three-dimensional speckle-tracking echocardiographic MAGYAR-Path Study.

Hemophilia is an X-linked inherited disorder primarily affecting males, its major types are type A (deficiency in factor VIII) and B (deficiency in factor IX), and is considered to be the most common severe congenital coagulation factor deficiency. The present study was designed to test whether any differences in left ventricular (LV) rotational mechanics could be demonstrated between male patients with hemophilia and healthy controls using three-dimensional speckle-tracking echocardiography (3DSTE)-derived virtual LV models. The present study consisted of 17 patients with hemophilia, however, 3 patients were excluded due to insufficient image quality. In the remaining patient population, 12 patients had hemophilia A and 2 patients had hemophilia B (mean age: 42.2±18.9 years, all males). The control group comprised 16 age-matched healthy subjects (46.0±5.9 years, all males). None of the routine two-dimensional echocardiographic data differ between patients with hemophilia and controls. None of the patients and controls showed ≥ grade 1 valvular regurgitations and had valvular stenoses. In one subject, the near absence of LV twist called as LV "rigid body rotation" could be detected, data of which were managed separately. While 3DSTE-derived apical LV rotation was 3.65 degrees, basal LV rotation proved to be 3.57 degrees leading to 0.08-degree LV apico-basal gradient suggesting counterclockwise LV "rigid body rotation". In the remaining patients, both LV apical rotation (7.25±6.20 vs. 10.39±4.16 degrees, P<0.02) and LV twist (10.24±5.60 vs. 14.38±3.93 degrees, P<0.003) showed significant impairment in patients with hemophilia. LV rotational abnormalities are present in hemophilia with reduced LV apical rotation and twist.

Safety and effectiveness of recombinant factor XIII‐A2 in congenital factor XIII deficiency: Real‐world evidence

BackgroundRegular factor XIII (FXIII) prophylaxis is standard treatment for congenital FXIII A‐subunit deficiency (FXIII‐A CD). Recombinant factor XIII‐A2 (rFXIII‐A2) was extensively evaluated in the mentor trials. ObjectiveTo assess real‐world safety and treatment effectiveness of rFXIII‐A2 prophylaxis from the mentor 6 trial. Patients/Methodsmentor 6 was a noninterventional, postauthorization safety study investigating rFXIII‐A2 prophylaxis in FXIII‐A CD. rFXIII‐A2 treatment was observed for 2 to 6 years per patient. The primary end point was documentation of adverse drug reactions (including anti‐FXIII antibody development). Secondary end points were serious adverse events (SAEs), medical events of special interest (MESIs), and annualized bleeding rate (ABR). ResultsAmong 30 patients (mean age, 25.5 years), there were 44 adverse events (AEs) (30 mild, 13 moderate, 1 severe). Eleven AEs were possibly/probably related to rFXIII‐A2. Of four MESIs, two were unlikely related to rFXIII‐A2 (accidental overdose, deep vein thrombosis), and two were possibly/probably related (nonneutralizing anti‐FXIII antibody, decreased therapeutic response). All 10 SAEs were unlikely related to rFXIII‐A2. Over a follow‐up of 75.4 patient‐years, there were six treatment‐requiring bleeds (all trauma‐related with no spontaneous bleeds), giving a treatment‐requiring ABR of 0.066; five bleeds were treated successfully with rFXIII‐A2. Eight of nine minor surgeries performed during rFXIII‐A2 prophylaxis reported successful hemostatic outcomes (one missing evaluation). ConclusionsThese data confirm that rFXIII‐A2 prophylaxis is well tolerated as long‐term care. There were no spontaneous bleeds, ABR was low, and rFXIII‐A2 successfully treated bleeds in patients receiving rFXIII‐A2 prophylaxis.

Congenital deficiency reveals critical role of ISG15 in skin homeostasis

Ulcerating skin lesions are manifestations of human ISG15 deficiency, a type I interferonopathy. However, chronic inflammation may not be their exclusive cause. We describe two siblings with recurrent skin ulcers that healed with scar formation upon corticosteroid treatment. Both had a homozygous nonsense mutation in the ISG15 gene, leading to unstable ISG15 protein lacking the functional domain. We characterized ISG15–/– dermal fibroblasts, HaCaT keratinocytes, and human induced pluripotent stem cell–derived vascular endothelial cells. ISG15-deficient cells exhibited the expected hyperinflammatory phenotype, but also dysregulated expression of molecules critical for connective tissue and epidermis integrity, including reduced collagens and adhesion molecules, but increased matrix metalloproteinases. ISG15–/– fibroblasts exhibited elevated ROS levels and reduced ROS scavenger expression. As opposed to hyperinflammation, defective collagen and integrin synthesis was not rescued by conjugation-deficient ISG15. Cell migration was retarded in ISG15–/– fibroblasts and HaCaT keratinocytes, but normalized under ruxolitinib treatment. Desmosome density was reduced in an ISG15–/– 3D epidermis model. Additionally, there were loose architecture and reduced collagen and desmoglein expression, which could be reversed by treatment with ruxolitinib/doxycycline/TGF-β1. These results reveal critical roles of ISG15 in maintaining cell migration and epidermis and connective tissue homeostasis, whereby the latter likely requires its conjugation to yet unidentified targets.

Adolescents with congenital limb reduction deficiency: Perceptions of treatment during childhood and its meaning for their current and future situation.

BackgroundChildren with congenital limb reduction deficiency live with the decisions made by their parents and healthcare professionals about treatments to be carried out during the first years of life. To understand better the meaning of treatment during childhood, it is necessary to listen to adolescents who have had this experience. The aim of this study was to investigate the perceptions of adolescents with congenital limb reduction deficiency concerning the treatment they received during childhood and what it meant to them currently and in the future.MethodsA descriptive design with a qualitative approach was used. Semi‐structured interviews were conducted with 10 adolescents (six girls and four boys) with upper and/or lower limb reduction deficiency, median age 17.5 years (range 16–19). The interview data were analysed using a phenomenographic approach.ResultsThe treatment received during childhood had contributed to shaping the adolescents, as shown in the emerging description categories Creating opportunities, Choosing one's own path and Belonging in a context. Their current situation fell into three categories: A continuous journey, indicating that they still used the skills learned during childhood; Leaving the door open, indicating that they were not currently using the skills learned during childhood, but felt that there could be opportunities ahead; and Closing a chapter, indicating that they had stopped using their prosthesis or assistive devices and no longer needed those skills. Further, the adolescents' thoughts about the future are portrayed in the categories Uncertainty about the future and Confidence about the future.ConclusionsAn understanding of the meaning of treatment received during childhood may help improve the delivery of treatment and continued support to meet the needs of children with congenital limb reduction deficiency in the short and long term.

A review of upper limb pediatric prostheses and perspectives on future advancements.

Many complex factors affect whether a child with a congenital upper limb deficiency will wear a prosthetic limb. Ultimately, for a child to wear and use their prosthesis, it must facilitate the effective performance of daily tasks and promote healthy social interactions. Although numerous pediatric devices are available, most provide a single open-close grasp (if a grasping function is available at all) and often offer nonanthropomorphic appearances, falling short of meeting these criteria. In this narrative review, we provide a critical assessment of the state of upper limb prostheses for children. We summarize literature using quality of life measures and categorize driving factors affecting prosthesis use into two main groupings: psychosocial and physical functioning. We define psychosocial functioning as factors related to social inclusion/exclusion, emotional function, independence, and school functioning. Physical functioning is defined as factors associated with the physical use of a prosthesis. The reviewed literature suggests that psychosocial domains of quality of life may be influenced by a congenital limb deficiency, and currently available prostheses provide little benefit in the physical functioning domains. Finally, we discuss technological advancements in adult prostheses that have yet to be leveraged for pediatric devices, including describing recently developed adult electric hands that may improve physical functioning through multiple grasping configurations and provide more hand-like cosmesis. We outline actions necessary to translate similar technologies for children and discuss further strategies to begin removing barriers to pediatric device adoption.

Clinical and genetic features of Chinese pediatric patients with severe congenital protein C deficiency who first presented with purpura fulminans: A case series study and literature review

IntroductionPurpura fulminans (PF) is a hematological emergency that can be caused by severe congenital protein C (PC) deficiency. It has been rarely reported in the Chinese population. We aimed to characterize the clinical and genetic features of Chinese pediatric patients with severe congenital PC deficiency who first presented with PF. Materials and methodsTwelve pediatric patients were diagnosed with severe congenital PC deficiency with PF, which was diagnosed based on our hospital records and previous reports from 1988 to July 2021 in China. We evaluated the clinical and genetic features of these patients. ResultsNine patients (9/12, 75%) had onsets that were observed within the first 48 h after birth. Six patients had a family history of thromboembolism. There was no consanguinity. Other symptoms were intracranial thrombosis or hemorrhage (4, 33.3%), ocular lesions (2, 16.7%), gastrointestinal hemorrhage (2, 16.7%) and kidney infarction before birth (1, 8.3%). All but one of the patients (one case not detected) had a plasma PC activity of <10%. The genetic study indicated that in the eight patients with inherited PC deficiency, two were homozygous, five were compound heterozygous and one was heterozygous for PC deficiency. ConclusionThis is the first and largest case series of Chinese pediatric patients with severe congenital PC deficiency who first presented with PF. It has been shown that treatment with both fresh frozen plasma and anticoagulants is recommended when PC concentrate is not easily available, especially in developing countries.

Noninvasive prenatal diagnosis of congenital factor XIII deficiency in Iran

Congenital factor (F) XIII deficiency is a rare coagulation factor deficiency that is inherited in an autosomal recessive manner. FXIII deficiency presents various clinical manifestations, such as intracranial hemorrhage (ICH), which is the most common cause of morbidity and mortality. As ICH can occur in the neonatal period, prenatal diagnosis (PND) is an effective way to reduce neonatal ICH and its associated fatal consequences. In this study, we investigated a noninvasive prenatal diagnosis (NIPD) method, cell-free fetal DNA (cffDNA), for PND in FXIII deficiency. This study was conducted on seven pregnant women in the first trimester. After extraction of cffDNA from maternal plasma, PCR-restriction fragment length polymorphism (PCR-RFLP) was performed to find the underlying F13A gene mutations previously identified in the family members. PCR-RFLP was also performed on postnatal DNA samples. Sanger sequencing was performed to confirm the results. Four cases were heterozygous for F13A gene mutations, whereas three were unaffected. PCR- RFLP results for cffDNA and postnatal DNA samples were identical, and Sanger sequencing confirmed the results. cffDNA is a noninvasive and effective method for PND in congenital FXIII deficiency.

Prevalence of Congenital Colour Vision Deficiency in Belagavi, Karnataka, India: A Hospital-based Cross-sectional Study

Introduction: Colour vision deficiency is a common ocular disorder, but it often goes unnoticed due to lack of awareness and screening programmes. If detected early in life, it can help people choose suitable career paths and genetic counselling can help reduce the birth of colour-blind children and future disappointments in life. Aim: To determine the prevalence of congenital Colour Vision Deficiency (CVD) among the general population in Belagavi at a tertiary level hospital and to spread awareness regarding CVD. Materials and Methods: This was a hospital-based crosssectional study, conducted at Jawaharlal Nehru Medical College, Belagavi, Karnataka, India (tertiary care hospital), from February 2022 to July 2022. The study population constituted 3131 people who visited the Ophthalmology Outpatient Department for routine eye examinations. A detailed ophthalmological examination was done, and colour vision was tested using Ishihara’s (38 plate) pseudoisochromatic test. Data was analysed using statistical software version 4.2.1 and Microsoft excel. Results: The mean age of the study population was 40.74±15.86 years. The overall prevalence of congenital CVD was 150 (4.79%). The prevalence of congenital colour vision defects was 13 (0.9%) in females, and 137 (8.12%) in males (p-value &lt;0.001). Deuteranomaly was the most common type of congenital CVD, found among 88 (58.67%), followed by protanopia among 28 (18.67%), followed by protanomaly and deuteranopia, each accounting for 17 (11.33%). Conclusion: The prevalence of CVD among people belonging to the Belagavi district was remarkable. The p

Novel homozygous mutation of PNLIP gene in congenital pancreatic lipase deficiency: an extended family study.

Introduction:Congenital pancreatic lipase deficiency (MIM 614338) is a rare genetic disorder caused by homozygous mutation in the PNLIP gene. Few cases have been reported worldwide and among them, few cases were genetically confirmed.Patients and methods:A 3-year-old girl presented with abundant greasy diarrhea started at the age of 2 years. Work up of steatorrhea including molecular testing of PNLIP gene in the patient and her family was done.Results:A novel homozygous variant c.1257G > A (p. Trp419Ter) of the PNLIP gene was detected in the patient. Her parents and two siblings were carriers for the same mutation. Pancreatic enzyme therapy was introduced, and a multidisciplinary team was involved with the education for the need for the lifelong use of pancreatic enzymes, and genetic counseling was carried out. There was a great improvement of steatorrhea with pancreatic enzymes treatment.Conclusions:PNLIP deficiency should be suspected in patients with steatorrhea who have low pancreatic lipase and an otherwise normal health and appropriate growth.

AryoSeven RT (Coagulation factor VIIa, recombinant) safety and efficacy study among congenial factor VII deficient patients in Iraq

BACKGROUND: Recombinant activated factor VII (FVII) is a product onetime evolved to stop bleeding occurring in hemophilia A and B patients with inhibitor, congenital FVII deficiency, Glanzmann disease, and in life-threatening bleeding. AIM: The aim was to evaluate the safety and efficacy of the coagulation factor VIIa, recombinant (AryoSeven RT) among congenital FVII deficiency patients at different centers in Iraq. METHODOLOGY: This is a prospective, observational, noninterventional study done at 5 medical centers in Iraq and it included 22 patients with FVII deficiency (congenital form) older than 14 years of age. Patients are recorded and followed for 6 months and they are subjected to AryoSeven RT depending on each patient individually. There were 3 main visits and 3 unscheduled visits for each patient during the study. Effectiveness evaluation was performed 6 h after each intervention. Adverse drug reactions related to the administration of AryoSeven RT were reported for each patient during each visit. RESULTS: A total of 22 participants were enrolled, classified into 18 (82%) were female and 4 (18%) were male. The mean age was 27.5 ± 14.0 years. Among 91 bleeding events, AryoSeven RT efficacy was effective in 89 events, excellent in 1 event, and partially effective in also 1 event. There was a reduction of PT from baseline (57.3 ± 15.2 s) to (13.9 ± 6.2 s) after 1st dose of AryoSeven RT and more reduction after 2nd dose of therapy (13.4 ± 4.4 s) and these were statistically significant (P = 0.001). Regarding FVII activity, there was a significant increase from baseline (8.4% ± 8.0%) to (95.8% ± 46.6%) after 1st dose and (131.8% ± 40.1%) after 2nd dose of AryoSeven RT with P = 0.001 for both. No major adverse events were reported except for headache in one participant (4.5%), and injection site reactions in three participants (13.6%).) CONCLUSION: AryoSeven RT is safe and effective clinically and by laboratory data in stopping bleeding in patients older than 14 years with inherited FVII deficiency.

Research Progress of Acupoint Application Therapy in Cerebral Palsy Based on Ancient and Modern Literature

Cerebral palsy, is a progressive brain damage due to various reasons syndrome, main show is congenital movement disorders and pose obstacles, is a common central nervous system dysfunction syndrome of infantile period, pathological changes in the brain, often before birth, around the time of birth and after birth, disease involving the limbs, often accompanied by mental retardation, Behavioral disorders, audio-visual disorders, epilepsy and other abnormalities [1]. In traditional Chinese medicine, cerebral palsy is classified into the categories of "five late", "five soft", "five hard", and so on. There are many causes of cerebral palsy, and its pathogenesis is congenital deficiency and postnatal loss. Studies have shown that the incidence of cerebral palsy is 2.22% ~ 2.9% in developed countries and 2.7% ~ 2.9%in low-income countries, while the incidence of cerebral palsy in China is 1.29% ~ 5.06% [2]. In traditional Chinese medicine (TCM) treatment, acupoint application is relatively quick, simple and safe, which can make up for the deficiency of internal medicine treatment. Therefore, it is widely used in ancient and modern clinical practice, and is also widely used in cerebral palsy diseases. This paper summarizes the research progress and analysis of acupoint application therapy in the treatment of cerebral palsy patients in ancient and modern times, and provides a more convenient and feasible treatment method and new ideas for the rehabilitation treatment of cerebral palsy patients.

A neonate with peromelia: congenital transverse deficiency of an upper limb

A neonate with peromelia: congenital transverse deficiency of an upper limb

The Effect of ChromaGen Contact Lenses on Corneal Clarity: A Corneal Densitometry.

Objectives:The purpose of this study is to investigate the effect of ChromaGen contact lens (CCL) on corneal clarity, expressed through the measurement of corneal densitometry (CD) values.Methods:This study included 22 eyes of 22 patients with congenital red-green color vision deficiency who were admitted to our clinic for the CCL trial. After a detailed ophthalmological examination and CD measurement with Pentacam HR (Oculus Optikgerate GmbH, Wetzlar, Germany), the most appropriate CCLs were defined through pseudoisochromatic plates and inserted for 2 h. The CD measurement was repeated after the removal of the CCL. Comparison was made of CD values before and after the insertion of the most appropriate CCL. The after-CCL/before-CCL ratio was calculated, and the effect of CCL type on this ratio was investigated.Results:The after-CCL values were higher in the anterior, central, posterior, and total thickness of the 0–2 mm concentric zone (p=0.044, p=0.040, p=0.021, and p=0.032, respectively) when compared to the before-CCL values. There was no statistically significant difference between before-CCL and after-CCL values in any layer of the 2–6, 6–10, and 10–12 mm concentric zones (p>0.05, for all). After-CCL/before-CCL ratios were similar in the Magenta2 (M2), Magenta3 (M3), and Violet3 (V3) types of CCLs (p>0.017).Conclusion:Usage for 2 h of CCL was observed to increase CD values in all layers of the 0–2 mm concentric zone irrespective of the type of CCL. Further studies with longer follow-up are required to determine the long-term effects and detect differing effects of CCL with different base curves.

A case report in which a myoelectric prosthetic hand was effective for a physiotherapist with an adult congenital left forearm deficiency

A case report in which a myoelectric prosthetic hand was effective for a physiotherapist with an adult congenital left forearm deficiency

Factor XIII and surgical bleeding.

Factor XIII (FXIII) is the final factor in the coagulation cascade. It converts soluble fibrin monomers into a stable fibrin clot, prevents premature degradation of fibrin, participates in wound healing, and helps prevent the loss of the endothelial barrier function. FXIII deficiency is believed to be rare, and this may explain why clinicians do not routinely take it into consideration. Congenital FXIII deficiency is a rare disease with a reported prevalence of 1 per million. However, the prevalence of acquired FXIII deficiency is much higher. Acquired forms have been described in patients with decreased hepatic or bone marrow synthesis, overconsumption and increased degradation by autoantibodies. This review offers guidance on how to suspect and diagnose FXIII deficiency in both the preoperative consultation and different surgical settings. We also analyze current scientific evidence in order to clarify when and why this clinical situation should be suspected, and how it may be treated.

Case report of recurrent bleeding in an infant with isolated prolonged prothrombin time due to congenital factor VII deficiency---a riddle solved

ABSTRACTFactor VII deficiency is a rare bleeding disorder showing an autosomal recessive pattern of inheritance. Data from our country on this particular entity is lacking. Especially the specific mutations associated with this disease are not well documented. The disease can have a wide spectrum of presentation from asymptomatic to catastrophic central nervous system or gastrointestinal system bleed. It can often present early in the neonatal period or be detected quite later in life. The genotype and phenotype correlation is also not well understood. Here, we report a case of recurrent bleeding in an infant boy who was otherwise absolutely well. His investigations had revealed isolated prolonged prothrombin time which remained uncorrected despite administration of injection vit K. Specific assay for factor VII level revealed that its value less than 1%. Sequencing of the F7 gene revealed our patient to be homozygous for mutation of promoter consensus sequence of F7 gene (-94C > T).

KIDNEY DAMAGE IN PATIENTS AFTER ALLOGENEIC STEM CELL TRANSPLANTATION.

The aim of the review is to present the most common renal complications after HSCT such as acute kidney injury, chronic kidney disease glomerulopathies. HSCT is a critical therapy for many cancer patients with cancer, as well as patients with some other nonmalignant hematologic disorders and certain congenital immune deficiencies. Kidney complications after HSCT in a form of acute kidney injury is associated with significant morbidity and worse patient outcome. In addition, risk of chronic kidney disease is also increased following HSCT. It is very important to be aware, prevent, early recognize and treat renal damage to improve kidney and patient survival.