What do we know about eligible organ donors? Analysis of data from a local Registry.

BACKGROUND: The imbalance between supply and demand for organ donations remains a hot topic for international debate. Brain-dead organ donors (DBDs) constitute the majority of organ donations in Poland. OBJECTIVES: To identify the factors that guided intensivists in qualifying a brain-dead patient as a potential organ donor, and whether the factors that significantly influenced the decision to qualify constituted an actual contraindication. MATERIAL AND METHODS: We performed a retrospective study based on data from the Silesian ICU Registry from 2010-2020 and publicly available information from Poltransplant. We compared the demographic and clinical characteristics of patients diagnosed with brain death who were identified as eligible and ineligible organ donors. RESULTS: Out of 25,465 patients enrolled in the Silesian ICU Registry, brain death was diagnosed in 385 (1.51%) study participants, and 61 of the records were excluded due to data incompleteness. In the remaining group (n = 324), there were 201 men and 123 women. Of them, only 180 study participants were reported as eligible donors (55.5%). Six patients had absolute contraindications to organ donation. CONCLUSIONS: A relatively small number of patients diagnosed with brain death were qualified by intensivists as eligible organ donors, with a limited number of medical factors influencing this decision. This means that other non-medical factors may affect the qualification of DBDs for organ procurement.

Adenotonsillar pathology in mucopolysaccharidoses - lysosomal storage predominates in paracortical CD63+ cells.

Despite the adenoids are regularly removed in patients with mucopolysaccharidoses (MPS), the underlying tissue and cellular pathologies remain understudied. We characterized an (immuno)histopathologic and ultrastructural phenotype dominated by lysosomal storage changes in a specific subset of adenotonsillar paracortical cells in 8 MPS patients (3 MPS I, 3 MPS II, and 2 MPS IIIA). These abnormal cells were effectively detected by an antibody targeting the lysosomal membrane tetraspanin CD63. Important, CD63+ storage vacuoles in these cells lacked the monocytes/macrophages lysosomal marker CD68. Such a distinct patterning of CD63 and CD68 was not present in a patient with infantile neurovisceral variant of acid sphingomyelinase deficiency. The CD63+ storage pathology was absent in two MPS I patients who either received enzyme-replacement therapy or underwent hematopoietic stem cells transplantation prior the adenoidectomy. Our study demonstrates novel features of lysosomal storage patterning and suggests diagnostic utility of CD63 detection in adenotonsillar lymphoid tissue of MPS patients.

Autosomal dominant ApoA4 mutations present as tubulointerstitial kidney disease with medullary amyloidosis.

Sporadic cases of apolipoprotein A-IV medullary amyloidosis have been reported. Here we describe five families found to have autosomal dominant medullary amyloidosis due to two different pathogenic APOA4 variants. A large family with autosomal dominant chronic kidney disease (CKD) and bland urinary sediment underwent whole genome sequencing with identification of a chr11:116692578 G>C (hg19) variant encoding the missense mutation p.L66V of the ApoA4 protein. We identified two other distantly related families from our registry with the same variant and two other distantly related families with a chr11:116693454 C>T (hg19) variant encoding the missense mutation p.D33N. Both mutations are unique to affected families, evolutionarily conserved and predicted to expand the amyloidogenic hotspot in the ApoA4 structure. Clinically affected individuals suffered from CKD with a bland urinary sediment and a mean age for kidney failure of 64.5 years. Genotyping identified 48 genetically affected individuals; 44 individuals had an estimated glomerular filtration rate (eGFR) under 60 ml/min/1.73 m2, including all 25 individuals with kidney failure. Significantly, 11 of 14 genetically unaffected individuals had an eGFR over 60 ml/min/1.73 m2. Fifteen genetically affected individuals presented with higher plasma ApoA4 concentrations. Kidney pathologic specimens from four individuals revealed amyloid deposits limited to the medulla, with the mutated ApoA4 identified by mass-spectrometry as the predominant amyloid constituent in all three available biopsies. Thus, ApoA4 mutations can cause autosomal dominant medullary amyloidosis, with marked amyloid deposition limited to the kidney medulla and presenting with autosomal dominant CKD with a bland urinary sediment. Diagnosis relies on a careful family history, APOA4 sequencing and pathologic studies.

Effect of the Application of Sunflower Biochar and Leafy Trees Biochar on Soil Hydrological Properties of Fallow Soils and under Soybean Cultivation.

Soils enriched with biochar are recommended as a cultivation grounds, especially in case they contain significant amount of sand. However, the interactions between biochar and plants, as well as the influence of the biochar on water retention, cultivation and air properties of soils, are still not obvious. The present study aimed to determine the impact of various biochar doses on soils used for soya cultivation, in comparison to soils maintained as black fallow soil, on their water retention and productivity, for the period of two years. Sunflower husk biochar (BC1) and biochar of leafy trees (BC2), in doses of 0, 40, 60, 80 t·ha-1, were used for field experiments. The water retention was investigated with porous boards in pressure chambers by a drying method. No differences in the hydrological properties of the soils that were differently managed (black fallow soil, crop) were observed following biochar application. Addition of BC1, in the amounts of 40, 60, and 80 t·ha-1, caused an increase in the plant available water capacity (AWC) by 15.3%, 18.7%, and 13.3%, respectively, whereas the field capacity (FC) increased by 7.4%, 9.4%, and 8.6% for soils without biochar. Application of BC2 analogously resulted in higher AWC, by 8.97, 17.2%, and 33.1%, respectively, and higher FC by 3.75, 7.5%, and 18.3%, respectively. Increasing the doses of BC1 and BC2, both on black fallow soils and soils enriched with soya, caused a rise in total porosity (TP) and drainage porosity (DP), and a decrease in soil bulk density (SBD). Biochar with a higher total area and higher porosity (BC1) applied to soils with soya cultivation resulted in lower reductions in AW and FC than BC2 in the second year of investigation.

Skin inflammation and impaired adipogenesis in a mouse model of acid ceramidase deficiency.

Acid ceramidase catalyzes the degradation of ceramide into sphingosine and a free fatty acid. Acid ceramidase deficiency results in lipid accumulation in many tissues and leads to the development of Farber disease (FD). Typical manifestations of classical FD include formation of subcutaneous nodules and joint contractures as well as the development of a hoarse voice. Healthy skin depends on a unique lipid profile to form a barrier that confers protection from pathogens, prevents excessive water loss, and mediates cell-cell communication. Ceramides comprise ~50% of total epidermis lipids and regulate cutaneous homeostasis and inflammation. Abnormal skin development including visual skin lesions has been reported in FD patients, but a detailed study of FD skin has not been performed. We conducted a pathophysiological study of the skin in our mouse model of FD. We observed altered lipid composition in FD skin dominated by accumulation of all studied ceramide species and buildup of abnormal storage structures affecting mainly the dermis. A deficiency of acid ceramidase activity also led to the activation of inflammatory IL-6/JAK/signal transducer and activator of transcription 3 and noncanonical NF-κB signaling pathways. Last, we report reduced proliferation of FD mouse fibroblasts and adipose-derived stem/stromal cells (ASC) along with impaired differentiation of ASCs into mature adipocytes.

The Impact of Kohlrabi Sprouts on Various Thyroid Parameters in Iodine Deficiency- and Sulfadimethoxine-Induced Hypothyroid Rats.

Brassica sprouts, as the rich source of dietary glucosinolates, may have a negative effect on thyroid function. In this study, kohlrabi sprouts diet, combined with two models of rat hypothyroidism, was tested. TSH, thyroid hormones and histopathology analysis were completed with the evaluation of immunological, biochemical, haematological parameters, cytosolic glutathione peroxidase, thioredoxin reductase in the thyroid, and plasma glutathione peroxidase. A thermographic analysis was also adapted to confirm thyroid dysfunction. The levels of TSH, fT3 and fT4, antioxidant enzyme (GPX) as well as histopathology parameters remained unchanged following kohlrabi sprouts ingestion, only TR activity significantly increased in response to the sprouts. In hypothyroid animals, sprouts diet did not prevent thyroid damage. In comparison with the rats with iodine deficiency, kohlrabi sprouts diet decreased TNF-α level. Neither addition of the sprouts to the diet, nor sulfadimethoxine and iodine deficiency, caused negative changes in red blood cell parameters, glucose and uric acid concentrations, or kidney function. However, such a dietary intervention resulted in reduced WBC levels, and adversely interfered with liver function in rats, most likely due to a higher dietary intake of glucosinolates. Moreover, the possible impact of the breed of the rats on the evaluated parameters was indicated.

Environmental and Production Aspects of Using Fertilizers Based on Waste Elemental Sulfur and Organic Materials.

Crop fertilization with sulfur is an important part of agricultural practices, as is the systematic increase in soil organic matter content. Materials of waste origin constitute a source of plant-available sulfur, as well as soil organic matter. The study was to verify the hypothesis assuming that combining waste sulfur pulp and its mixtures with organic materials enables simultaneous soil enrichment with readily available sulfur and organic matter. A 240-day incubation experiment was conducted, on two soils: very light and heavy; with two sulfur doses applied to each soil (20 and 40 mg S/kg d.m. for very light soil, and 30 and 60 mg S/kg d.m. for heavy soil). The sulfate sulfur content in the incubated soil material, treated with the addition of sulfur pulp and its mixtures with organic materials, increased significantly up to day 60 and then decreased. The application of these materials significantly increased the content of available sulfur and decreased the pH value of the incubated material. The effect of the introduced materials on dehydrogenase activity depended on soil granulometric composition (the impact of the applied materials on the activity of these enzymes in very light soil was small, and in heavy soil, their activity was usually limited by the presence of introduced materials). Application of the studied materials had little effect on the total organic carbon content in the incubated soil material (a significant change in the value of this parameter, in relation to the control soil, was recorded in some treatments of heavy soil).

Pitfalls of X-chromosome inactivation testing in females with Fabry disease.

Fabry disease (FD) is an X-linked lysosomal storage disorder caused by mutations in the GLA gene encoding alpha-galactosidase A (AGAL). The impact of X-chromosome inactivation (XCI) on the phenotype of female FD patients remains unclear. In this study we aimed to determine pitfalls of XCI testing in a cohort of 35 female FD patients. XCI was assessed by two methylation-based and two allele-specific expression assays. The results correlated, although some variance among the four assays was observed. GLA transcript analyses identified crossing-over in three patients and detected mRNA instability in three out of four analyzed null alleles. AGAL activity correlated with XCI pattern and was not influenced by the mutation type or by reduced mRNA stability. Therefore, AGAL activity may help to detect crossing-over in patients with unstable GLA alleles. Tissue-specific XCI patterns in six patients, and age-related changes in two patients were observed. To avoid misinterpretation of XCI results in female FD patients we show that (i) a combination of several XCI assays generates more reliable results and minimizes possible biases; (ii) correlating XCI to GLA expression and AGAL activity facilitates identification of cross-over events; (iii) age- and tissue-related XCI specificities of XCI patterning should be considered.

Assessment of the Possibilities for the Use of Selected Waste in Terms of Biogas Yield and Further Use of Its Digestate in Agriculture.

The utilization of municipal waste and sewage sludge as a source of energy is technically very difficult due to high variability of their physical and chemical properties. The aim of this study was to evaluate the efficiency of the conversion of biomass contained in the whitewater fraction of municipal waste and sewage sludge by means of methanogenesis. The second objective was to assess the chemical composition of the digestate in the context of its use for fertilizer purposes. The whitewater fraction of municipal waste and sewage sludge was subjected to methanogenesis under static experimental conditions, according to DIM DIN 38414 methodology. The methanogenesis of concentrated substrates used in agricultural biogas plants was taken as a reference to evaluate the efficiency of the process. The organic fraction of the municipal waste was characterized by approximately 30% lower value of the soluble COD, with a comparable level of total COD compared to other materials. The total biogas yield, i.e., 404 dm3 per 1 kg of dry weight of the batch, was measured in the facility with sewage sludge. In COD value, this is 0.232 dm3·g O2 COD. In the case of corn, these values were, respectively, 324 dm3 and 0.193, and for the organic sub-sieve fraction of municipal waste, 287 dm3·kg-1 dw or 0.178 dm3·g O2 COD, respectively. The type of fermented material did not affect the intensity of biogas production. The maximum level of biogas production occurred between the 13th and 15th day of the process. The digestate obtained in the process of methanogenesis of corn silage and the organic fraction of municipal waste was characterized by good parameters in terms of possible use for fertilization purposes.

Preparation, Characterization of Granulated Sulfur Fertilizers and Their Effects on a Sandy Soils.

There is a potential for using sulfur waste in agriculture. The main objective of this study was to design a granular fertilizer based on waste elemental sulfur. Humic acids and halloysite were used to improve the properties and their influence on soil properties. This is the first report on the use of proposed materials for fertilizer production. The following granular fertilizers were prepared (the percentage share of component weight is given in brackets): fertilizer A (waste sulfur (95%) + halloysite (5%)), fertilizer B (waste sulfur (81%) + halloysite (5%) + humic acids (14%)), fertilizer C (waste sulfur (50%) + halloysite (50%)) and fertilizer D (waste sulfur (46%) + halloysite (46%) + humic acids (8%)). Basic properties of the obtained granulates were determined. Furthermore, the effect of the addition of the prepared fertilizers on soil pH, electrolytic conductivity, and sulfate content was examined in a 90-day incubation experiment. Enrichment with humic acids and the higher amount of halloysite increased the fertilizer properties (especially the share of larger granules and bulk density). In addition, it stabilized soil pH and increased the sulfur content (extracted with 0.01 mol·L-1 CaCl2 and Mehlich 3) in the soil.

A mutation in the SAA1 promoter causes hereditary amyloid A amyloidosis.

Amyloid A amyloidosis is a serious clinical condition resulting from the systemic deposition of amyloid A originating from serum amyloid A proteins with the kidneys being the most commonly and earliest affected organ. Previously described amyloid A amyloidosis is linked to increased production and deposition of serum amyloid A proteins secondary to inflammatory conditions arising from infectious, metabolic, or genetic causes. Here we describe a family with primary amyloid A amyloidosis due to a chr11:18287683 T>C (human genome version19) mutation in the SAA1 promoter linked to the amyloidogenic SAA1.1 haplotype. This condition leads to a doubling of the basal SAA1 promoter activity and sustained elevation of serum amyloid A levels that segregated in an autosomal dominant pattern in 12 genetically affected and in none of six genetically unaffected relatives, yielding a statistically significant logarithm of odds (LOD) score over 5. Affected individuals developed proteinuria, chronic kidney disease and systemic deposition of amyloid composed specifically of the SAA1.1 isoform. Tocilizumab (a monoclonal antibody against the interleukin-6 receptor) had a beneficial effect when prescribed early in the disease course. Idiopathic forms represent a significant and increasing proportion (15-20%) of all diagnosed cases of amyloid A amyloidosis. Thus, genetic screening of the SAA1 promoter should be pursued in individuals with amyloid A amyloidosis and no systemic inflammation, especially if there is a positive family history.

Quality Assessment of Wild and Cultivated Green Tea from Different Regions of China.

Natural products have always enjoyed great popularity among consumers. Wild tea is an interesting alternative to tea from intensive plantations. The term "wild tea" is applied to many different varieties of tea, the most desirable and valued of which are native or indigenous tea plants. Special pro-health properties of wild tea are attributed to the natural conditions in which it grows. However, there are no complex studies that describe quality and health indicators of wild tea. The aim of this research was to evaluate the quality of wild and cultivated green tea from different regions of China: Wuzhishan, Baisha, Kunlushan, and Pu'Er. The assessment was carried out by verifying the concentration of selected chemical components in tea and relating it to the health risks they may pose, as well as to the nutritional requirements of adults. Wild tea was characterized by higher micronutrient concentration. The analyzed teas can constitute a valuable source of Mn in the diet. A higher concentration of nitrates and oxalates in cultivated tea can be associated with fertilizer use. The analyzed cultivated tea was a better source of antioxidants with a higher concentration of caffeine. There were no indications of health risks for wild or cultivated teas.

Impact of digestate addition on the biostabilization of undersized fraction from municipal solid waste.

Biostabilization is a commonly applied method in mechanical-biological treatment (MBT) plants to process municipal solid waste. In many ways, e.g. by applying additives to waste, MBT plant operators strive to enhance the effectiveness of biostabilization, which leads to reducing the time and energy outlays necessary for the process, as well as to minimizing the amount of final stabilized waste directed to landfills. This paper deals with the impact of digestate waste from agricultural biogas plants used as additive to the biostabilization process of undersized fraction from municipal solid waste (UFMSW) on the intensive phase of the process and properties of stabilized waste. The aim of this study was to assess whether, and if so to what extent, the application of digestate waste affects the process. Five different input compositions were tested (without digestate and with the addition of digestate at: 2.5; 5; 7.5 and 10 wt%). Waste treatment time was 2 weeks. Changes in moisture content, organic matter (OM), respiration activity (AT4), bulk density, air-filled porosity, heavy metal content, pH, carbon to nitrogen ratio, as well as composition of process gases emitted were evaluated. Additionally, microorganisms (including pathogens) inhabiting the processed waste in the aspect of waste sanitation were analyzed. It was found that the addition of digestate at 2.5, 5 and 7.5 wt% extended the duration of the thermophilic phase and decreased the CO2 content in process gases. The addition of digestate at 2.5 wt% and 5 wt%, decreased also OM by approx. 25% of the initial value and AT4 by approx. 30%. It was also proved that the addition of digestate favors the limited sanitation of UFMSW. As a result of the research, it was found that the addition of digestate at 2.5 wt% and 5 wt% is sufficient to accelerate the aerobic biological degradation of UFMSW.

Combined valve replacement and aortocoronary bypass in an adult mucopolysaccharidosis type VII patient.

Mucopolysaccharidosis type VII (MPS VII) is a rare autosomal recessive lysosomal storage disorder. MPS VII is caused by mutations in the GUSB gene that encodes ß-glucuronidase. Adult MPS VII patients present with musculoskeletal abnormalities, coarse features, and corneal clouding. Cardiac and valvular impairment are common; however, severe valvular disease necessitating surgery has not yet been reported. We present a 32-year-old male MPS VII patient admitted to our hospital with decompensated heart failure. We identified aortic valve disease with severe stenosis (valve area 0.69 cm2) and moderate regurgitation. Severe mitral valve stenosis (valve area 1 cm2) with moderate to severe regurgitation was also found in the patient. In addition, an occlusion of the right coronary artery (RCA) was documented. The patient underwent surgical replacement of the mitral and aortic valves with mechanical prostheses and implantation of a venous bypass graft to his RCA. The surgery led to a significant improvement of his clinical symptoms. Six months after the procedure, both mechanical valves function normally. Histopathological assessment identified chronic inflammatory infiltrates, fibrosis and calcifications in both resected valves. Foamy cytoplasmic transformation was most evident in the valvular interstitial cells. The ultrastructural vacuolar abnormality seen in these cells corresponded to storage changes observed in other MPSs. In conclusion, we describe clinical findings and valvular pathology in an MPS VII patient with the first-reported successful combined surgical valve replacement and myocardial revascularization. The histological and ultrastructural analyses revealed that the lysosomal storage predominantly affected the valvular interstitial cells.

Pigmentary retinopathy can indicate the presence of pathogenic LAMP2 variants even in somatic mosaic carriers with no additional signs of Danon disease.

PURPOSE: Danon disease (DD) is a rare X-linked disorder caused by pathogenic variants in LAMP2. DD primarily manifests as a severe cardiomyopathy. An early diagnosis is crucial for patient survival. The aim of the study was to determine the usefulness of ocular examination for identification of DD. METHODS: Detailed ocular examination in 10 patients with DD (3 males, 7 females) and a 45-year-old asymptomatic female somatic mosaic carrier of a LAMP2 disease-causing variant. RESULTS: All patients with manifest cardiomyopathy had pigmentary retinopathy with altered autofluorescence and diffuse visual field loss. Best corrected visual acuity (BCVA) was decreased (<0.63) in 8 (40%) out of 20 eyes. The severity of retinal pathology increased with age, resulting in marked cone-rod involvement overtime. Spectral-domain optical coherence tomography in younger patients revealed focal loss of photoreceptors, disruption and deposition at the retinal pigment epithelium/Bruch's membrane layer (corresponding to areas of marked increased autofluorescence), and hyperreflective foci in the outer nuclear layer. Cystoid macular oedema was seen in one eye. In the asymptomatic female with somatic mosaicism, the BCVA was 1.0 bilaterally. An abnormal autofluorescence pattern in the left eye was present; while full-field electroretinography was normal. CONCLUSIONS: Detailed ocular examination may represent a sensitive and quick screening tool for the identification of carriers of LAMP2 pathogenic variants, even in somatic mosaicism. Hence, further investigation should be undertaken in all patients with pigmentary retinal dystrophy as it may be a sign of a life-threatening disease.

NOTCH2NLC CGG Repeats Are Not Expanded and Skin Biopsy Was Negative in an Infantile Patient With Neuronal Intranuclear Inclusion Disease.

Neuronal intranuclear inclusion disease (NIID) is a progressive neurodegenerative disorder categorized into 3 phenotypic variants: infantile, juvenile, and adult. Four recent reports have linked NIID to CGG expansions in the NOTCH2NLC gene in adult NIID (aNIID) and several juvenile patients. Infantile NIID (iNIID) is an extremely rare neuropediatric condition. We present a 7-year-old male patient with severe progressive neurodegenerative disease that included cerebellar symptoms with cerebellar atrophy on brain MRI, psychomotor developmental regression, pseudobulbar syndrome, and polyneuropathy. The diagnosis of iNIID was established through a postmortem neuropathology work-up. We performed long-read sequencing of the critical NOTCH2NLC repeat motif and found no expansion in the patient. We also re-evaluated an antemortem skin biopsy that was collected when the patient was 2 years and 8 months old and did not identify the intranuclear inclusions. In our report, we highlight that the 2 methods (skin biopsy and CGG expansion testing in NOTCH2NLC) used to identify aNIID patients may provide negative results in iNIID patients.

An international cohort study of autosomal dominant tubulointerstitial kidney disease due to REN mutations identifies distinct clinical subtypes.

There have been few clinical or scientific reports of autosomal dominant tubulointerstitial kidney disease due to REN mutations (ADTKD-REN), limiting characterization. To further study this, we formed an international cohort characterizing 111 individuals from 30 families with both clinical and laboratory findings. Sixty-nine individuals had a REN mutation in the signal peptide region (signal group), 27 in the prosegment (prosegment group), and 15 in the mature renin peptide (mature group). Signal group patients were most severely affected, presenting at a mean age of 19.7 years, with the prosegment group presenting at 22.4 years, and the mature group at 37 years. Anemia was present in childhood in 91% in the signal group, 69% prosegment, and none of the mature group. REN signal peptide mutations reduced hydrophobicity of the signal peptide, which is necessary for recognition and translocation across the endoplasmic reticulum, leading to aberrant delivery of preprorenin into the cytoplasm. REN mutations in the prosegment led to deposition of prorenin and renin in the endoplasmic reticulum-Golgi intermediate compartment and decreased prorenin secretion. Mutations in mature renin led to deposition of the mutant prorenin in the endoplasmic reticulum, similar to patients with ADTKD-UMOD, with a rate of progression to end stage kidney disease (63.6 years) that was significantly slower vs. the signal (53.1 years) and prosegment groups (50.8 years) (significant hazard ratio 0.367). Thus, clinical and laboratory studies revealed subtypes of ADTKD-REN that are pathophysiologically, diagnostically, and clinically distinct.

Danon disease is an underdiagnosed cause of advanced heart failure in young female patients: a LAMP2 flow cytometric study.

AIMS: Danon disease (DD) is a rare X-linked disorder caused by mutations in the lysosomal-associated membrane protein type 2 gene (LAMP2). DD is difficult to distinguish from other causes of dilated or hypertrophic cardiomyopathy (HCM) in female patients. As DD female patients regularly progress into advanced heart failure (AHF) aged 20-40 years, their early identification is critical to improve patient survival and facilitate genetic counselling. In this study, we evaluated the prevalence of DD among female patients with non-ischemic cardiomyopathy, who reached AHF and were younger than 40 years. METHODS AND RESULTS: The study cohort comprised 60 female patients: 47 (78%) heart transplant recipients, 2 (3%) patients treated with ventricular assist device, and 11 (18%) patients undergoing pre-transplant assessment. Aetiology of the cardiomyopathy was known in 15 patients (including two DD patients). LAMP2 expression in peripheral white blood cells (WBC) was tested by flow cytometry (FC) in the remaining 45 female patients. Whole exome sequencing was used as an alternative independent testing method to FC. Five additional female DD patients (two with different novel LAMP2 mutations) were identified by FC. The total prevalence of DD in this cohort was 12%. HCM phenotype (57% vs. 9%, * P = 0.022) and delta waves identified by electrocardiography (43% vs. 0%, ** P = 0.002) were significantly more frequent in DD female patients. CONCLUSIONS: Danon disease is an underdiagnosed cause of AHF in young female patients. LAMP2 expression testing in peripheral WBCs by FC can be used as an effective screening/diagnostic tool to identify DD in this patient population.