Therapeutic advances in rare disease最新文献

{"title":"Papilledema and retinopathy lead to diagnosis of IgA nephropathy: a case report.","authors":"James T Kwan,&nbsp;Erin Lanzo,&nbsp;David J Ramsey,&nbsp;Aarti Kalra,&nbsp;Geetha K Athappilly-Rolfe","doi":"10.1177/26330040231152957","DOIUrl":"10.1177/26330040231152957","url":null,"abstract":"<p><p>This case features a young healthy male who was diagnosed with immunoglobulin A (IgA) nephropathy after presenting with blurry vision that was caused by hypertensive retinopathy and papilledema. In this report, we examine the relationship between hypertension and increased intracranial pressure (ICP), along with the ocular signs of IgA nephropathy that may present in the setting of kidney disease.</p>","PeriodicalId":75218,"journal":{"name":"Therapeutic advances in rare disease","volume":"4 ","pages":"26330040231152957"},"PeriodicalIF":0.0,"publicationDate":"2023-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/f6/93/10.1177_26330040231152957.PMC10032434.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9473477","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Successful combined umbilical cord blood and bone marrow transplantation from an HLA-matched sibling for MPS VI: a case report.","authors":"Pankti Haria,&nbsp;Vinayak Kedage,&nbsp;Pradnya Dalvi,&nbsp;Satyen Sanghavi,&nbsp;Parvathi Chandran","doi":"10.1177/26330040231154283","DOIUrl":"10.1177/26330040231154283","url":null,"abstract":"<p><p>Mucopolysaccharidosis type VI (MPS VI), also known as Maroteaux-Lamy syndrome, polydystrophic dwarfism, and arysulfatase B (ASB) deficiency, is a lysosomal storage disorder with autosomal recessive inheritance characterized by progressive multisystem involved that causes many tissues and organs to enlarge and become inflamed. Skeletal deformities are common that progress and worsen in varying degrees thus affecting quality of life and life expectancy. Many studies have shown that allogeneic hematopoietic stem cell transplantation can reduce morbidity and enhance the survival and quality of life in such patients. We present a case of a 6-year-old girl diagnosed with MPS VI at the age of 3 years. Thereafter the patient developed various complications of the disease causing morbidity. She was then treated with combined umbilical cord blood (UCB) and bone marrow (BM) transplantation from complete human leukocyte antigen-matched (6/6) donor which was her younger sibling. The transplant was successful without any serious adverse effects. No additional treatments such as enzyme replacement therapy (ERT) were required. The transplantation of UCB along with BM can be considered as an effective treatment approach for this rare disease.</p><p><strong>Plain language summary: </strong><b>Case of MPS VI treated with stem cell transplantation:</b> This article reports a case of a 6-year-old girl who was diagnosed with mucopolysaccharidosis type VI also known as MPS VI, an autosomal recessive disorder that caused her arysulfatase B (ASB) deficiency. This disorder affects growth velocity, gives coarse facial features, gives rise to skeletal deformities, frequent upper-airway infections, enlarged liver and spleen, hearing loss, and joint stiffness. However, very few studies have reported definitive ways to treat or cure MPS VI. To help her combat this disorder, combined umbilical cord blood and bone marrow transplantation was done. This transplant alleviated her symptoms, and the patient did not need any further treatment. Follow-up, 4 years after transplantation, shows normal enzyme level, no complications, and improved quality of life.</p>","PeriodicalId":75218,"journal":{"name":"Therapeutic advances in rare disease","volume":"4 ","pages":"26330040231154283"},"PeriodicalIF":0.0,"publicationDate":"2023-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/69/db/10.1177_26330040231154283.PMC10032436.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10645349","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Novel insights into the phenotype and long-term D-gal treatment in PGM1-CDG: a case series.","authors":"Silvia Radenkovic,&nbsp;Christin Johnsen,&nbsp;Andreas Schulze,&nbsp;Gurnoor Lail,&nbsp;Laura Guilder,&nbsp;Kaitlin Schwartz,&nbsp;Matthew Schultz,&nbsp;Saadet Mercimek-Andrews,&nbsp;Suzanne Boyer,&nbsp;Eva Morava","doi":"10.1177/26330040221150269","DOIUrl":"10.1177/26330040221150269","url":null,"abstract":"<p><p>Phosphoglucomutase-1-congenital disorder of glycosylation (PGM1-CDG) (OMIM: 614921) is a rare autosomal recessive inherited metabolic disease caused by the deficiency of the PGM1 enzyme. Like other CDGs, PGM1-CDG has a multisystemic presentation. The most common clinical findings include liver involvement, rhabdomyolysis, hypoglycemia, and cardiac involvement. Phenotypic severity can vary, though cardiac presentation is usually part of the most severe phenotype, often resulting in early death. Unlike the majority of CDGs, PGM1-CDG has a treatment: oral D-galactose (D-gal) supplementation, which significantly improves many aspects of the disorder. Here, we describe five PGM1-CDG patients treated with D-gal and report both on novel clinical symptoms in PGM1-CDG as well as the effects of the D-gal treatment. D-gal resulted in notable clinical improvement in four patients, though the efficacy of treatment varied between the patients. Furthermore, there was a significant improvement or normalization in transferrin glycosylation, liver transaminases and coagulation factors in three patients, creatine kinase (CK) levels in two, while hypoglycemia resolved in two patients. One patient discontinued the treatment due to urinary frequency and lack of clinical improvement. Furthermore, one patient experienced recurrent episodes of rhabdomyolysis and tachycardia even on higher doses of therapy. D-gal also failed to improve the cardiac function, which was initially abnormal in three patients, and remains the biggest challenge in treating PGM1-CDG. Together, our findings expand the phenotype of PGM1-CDG and underline the importance of developing novel therapies that would specifically treat the cardiac phenotype in PGM1-CDG.</p>","PeriodicalId":75218,"journal":{"name":"Therapeutic advances in rare disease","volume":"4 ","pages":"26330040221150269"},"PeriodicalIF":0.0,"publicationDate":"2023-01-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/73/89/10.1177_26330040221150269.PMC10032428.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10299664","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Left-sided valvular heart disease and retinopathy in a 38-year-old woman with attenuated mucopolysaccharidosis: a case report.","authors":"Faizal Z Asumda,&nbsp;Jessica A Kraker,&nbsp;Sarah C Thomas,&nbsp;Joseph Maleszewski,&nbsp;Edwin M Stone,&nbsp;Brendan C Lanpher,&nbsp;Lisa A Schimmenti","doi":"10.1177/26330040221145945","DOIUrl":"10.1177/26330040221145945","url":null,"abstract":"<p><p>Mucopolysaccharidoses (MPS) are a group of inherited lysosomal storage disorders caused by deficient levels and/or activity of glycosaminoglycan (GAG)-degradative enzymes. MPS are characterized by accumulation of the mucopolysaccharides heparan sulfate, dermatan sulfate, keratan sulfate, or chondroitin sulfate in tissues. We report the case of a 38-year-old woman with a history of joint restriction and retinitis pigmentosa who developed bivalvular heart failure requiring surgery. It was not until pathological examination of surgically excised valvular tissue that a diagnosis of MPS I was made. Her musculoskeletal and ophthalmologic symptoms, when placed in the context of MPS I, painted the diagnostic picture of a genetic syndrome that was overlooked until a diagnosis was made in late middle age.</p>","PeriodicalId":75218,"journal":{"name":"Therapeutic advances in rare disease","volume":"4 ","pages":"26330040221145945"},"PeriodicalIF":0.0,"publicationDate":"2023-01-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/46/bf/10.1177_26330040221145945.PMC10032445.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9470358","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Bulbar conjunctival plexiform schwannoma in a 5-year-old patient; expect the unexpected!","authors":"Mona Kenani,&nbsp;Rafaa Babgi,&nbsp;Sultan Bakri","doi":"10.1177/26330040231178321","DOIUrl":"https://doi.org/10.1177/26330040231178321","url":null,"abstract":"<p><p>Rare, atypical ophthalmological conditions in adults include bulbar conjunctival plexiform schwannomas, which are usually asymptomatic. Few case reports in the literature indicate the presence of orbital/conjunctival schwannomas in adult patients and, rarely, among children under the age of 12. We report a case of a 5-year-old girl who presented in an outpatient clinic with inferior temporal conjunctival nonpigmented cystic lesion of a 10 × 10 mm size. Upon examination, we could not identify a feeding vessel. The mass was mobile and not fixed to the sclera. The history indicated a 1-year duration but the mass in the left eye had progressively increased in size during the last 2 months prior to presentation. There was no traumatic injury or past history of ophthalmic surgery. Surgical excision of the cyst was sucessfully performed, and histopathological examination confirmed bulbar conjunctival plexiform schwannoma diagnosis. Upon regular follow-up evaluation, there was no evidence of recurrence or malignant transformation. Although it is extremely rare to encounter conjunctival schwannomas in children, it should be considered in ovoidal well-circumscribed orbital swellings, particularly those that appear with no history of trauma or surgery to the eye. Surgical excision is effective and safe therapeutic intervention.</p>","PeriodicalId":75218,"journal":{"name":"Therapeutic advances in rare disease","volume":"4 ","pages":"26330040231178321"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/51/8a/10.1177_26330040231178321.PMC10285596.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10072655","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A novel case of homozygous PAX1 mutation associated with hypoparathyroidism.","authors":"Benjamin L Hamel,&nbsp;Seema Kumar,&nbsp;Leah Heidenreich,&nbsp;Avni Joshi,&nbsp;Christiana DaSilva,&nbsp;Faizal Z Asumda","doi":"10.1177/26330040231158776","DOIUrl":"https://doi.org/10.1177/26330040231158776","url":null,"abstract":"<p><p>The PAX1 gene plays an important role in the development of the parathyroid glands and the thymus. Mouse knockout models of PAX1, PAX3, and PAX9 have been found to have hypoplastic or absent parathyroid glands. To our knowledge, there are no reported cases of PAX1-associated hypoparathyroidism in humans. We present a case of hypoparathyroidism in a 23-month-old boy with a homozygous pathogenic variant in the PAX1 gene (<i>PAX1</i> NM_006192.5 c.463_465del variant), predicted to cause an in-frame deletion of asparagine at position 155 (p.Asn155del) of the PAX1 protein. The hypoparathyroidism was unmasked after the patient developed significant hypocalcemia while receiving GoLYTELY (polyethylene glycol 3350, sodium sulfate anhydrous, sodium bicarbonate, sodium chloride, potassium chloride) for bowel cleanout. The patient had mild and asymptomatic hypocalcemia prior to hospitalization. The patient was noted to have inappropriately normal parathyroid hormone (PTH) level at the time of documented hypocalcemia thereby suggesting a diagnosis of hypoparathyroidism.</p><p><strong>Plain language summary: </strong><b>The first human case of hypoparathyroidism associated with a rare genetic disorder: a case report of PAX1 gene mutation</b> The paired box (<i>PAX</i>) gene family is important for embryo development. One subfamily, PAX1, is necessary for development of the spinal column, thymus (important for the immune system development), and parathyroid (helps regulate the amount of calcium in the body). We present the case of a 23-month-old boy with known PAX1 gene mutation who came in with episodes of vomiting and poor growth. His presentation was thought to be most likely related to constipation. He was started on bowel cleanout medication and intravenous fluids. However, his calcium that had been mildly low subsequently dropped to very low levels. The level of parathyroid hormone (which helps regulate calcium levels) was inappropriately normal, meaning that his body was unable to make more, and was consistent with hypoparathyroidism. He was treated with calcium supplements and vitamin D and calcium levels normalized. He continues to be on calcium and vitamin D and calcium levels have remained stable. Doctors should keep this complication in mind when treating patients with PAX1 gene mutation.</p>","PeriodicalId":75218,"journal":{"name":"Therapeutic advances in rare disease","volume":"4 ","pages":"26330040231158776"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/9c/c4/10.1177_26330040231158776.PMC10184197.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9486506","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Surgical resection therapy of a rare presentation of persistent Mullerian duct syndrome: a case review.","authors":"Iwens Moreira de Faria,&nbsp;Augusto Machado de Souza,&nbsp;Luiz Rodrigues Pereira Júnior,&nbsp;Gabriel Gomes Vieira Ribeiro Leite","doi":"10.1177/26330040231184484","DOIUrl":"https://doi.org/10.1177/26330040231184484","url":null,"abstract":"<p><p>Persistent Mullerian Duct Syndrome (PMDS) is an extremely rare disease with less than 300 cases recorded in medical literature. Our patient was a 37 year old male who presented at the medical office with hematospermia as his sole complaint. He had previously undergone left orchidopexy and presented with hypotrophic left testicle and right testicle agenesis. PMDS differential was considered with the clear observation of a uterus-like structure during pelvic ultrasonography. The organs were later studied in magnetic resonance imaging and confirmed by post-surgery anatomopathological examination. Patient was discharged 24 h after surgery and developed azoospermia post-surgery.</p>","PeriodicalId":75218,"journal":{"name":"Therapeutic advances in rare disease","volume":"4 ","pages":"26330040231184484"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/2c/b1/10.1177_26330040231184484.PMC10331220.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9817927","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"26th Annual Symposium of the United Mitochondrial Disease Foundation -Mitochondrial Medicine 2023 – Abstracts","authors":"","doi":"10.1177/26330040231199665","DOIUrl":"https://doi.org/10.1177/26330040231199665","url":null,"abstract":"Open accessAbstractFirst published online October 9, 202326th Annual Symposium of the United Mitochondrial Disease Foundation -Mitochondrial Medicine 2023 – Abstracts*All Articleshttps://doi.org/10.1177/26330040231199665","PeriodicalId":75218,"journal":{"name":"Therapeutic advances in rare disease","volume":"44 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136201878","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A multidisciplinary approach to treating a unique case of recurrent metastatic thymic carcinoma: case report.","authors":"Carol Wang,&nbsp;David Erick Elkowitz,&nbsp;Michael John Esposito,&nbsp;Rakesh Dinesh Shah,&nbsp;Henry Tannous,&nbsp;Maria-Louise Barilla-Labarca,&nbsp;Nagashree Seetharamu","doi":"10.1177/26330040231190661","DOIUrl":"https://doi.org/10.1177/26330040231190661","url":null,"abstract":"<p><p>Thymic carcinoma (TC) is a rare and aggressive malignancy of the thymus associated with less than 25% 5 years survivability. Our case report showcases the successful treatment of advanced metastatic TC using a multidisciplinary approach and the utility of checkpoint inhibitors in treatment of recurrent TC. A 50-year-old man presented with Raynaud's phenomenon and was found to have a stage IVb TC (T3N2M0). Eight months after management with neoadjuvant chemotherapy, surgical resection and adjuvant chemoradiotherapy, patient was diagnosed with metastasis of TC to the liver and a concurrent stage III (T2N1M0) primary sigmoid colon adenocarcinoma. Following complete resection of the colon adenocarcinoma, the patient started palliative-intent treatment for TC with pembrolizumab given PD-L1 tumor proportionate score of 100%. This resulted in a sustained complete response for 38 months. Our patient did have immune-related adverse events involving multiple organs but was able to continue pembrolizumab for a standard treatment duration of 2 years with multidisciplinary care. When recurrent disease was noted in a portocaval lymph node, pembrolizumab was reinitiated and a second complete response was achieved. The patient has maintained that complete response while maintaining an acceptable quality of life, showing that treatment with pembrolizumab is effective in patients after discontinuation with prior immunotherapy.</p>","PeriodicalId":75218,"journal":{"name":"Therapeutic advances in rare disease","volume":"4 ","pages":"26330040231190661"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/f7/37/10.1177_26330040231190661.PMC10422886.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10352046","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Case report on the use of canakinumab for treatment of recurrent fevers and proteinuria in refractory systemic lupus erythematosus.","authors":"Kimia Yavari,&nbsp;Joseph Grisanti","doi":"10.1177/26330040231191141","DOIUrl":"https://doi.org/10.1177/26330040231191141","url":null,"abstract":"<p><p>Systemic lupus erythematosus (SLE) is a chronic multiorgan autoimmune disease with a wide range of clinical manifestations and a characteristic renal involvement leading to proteinuria. There remains an unmet need in SLE disease management as standard treatments including anti-inflammatory drugs, corticosteroids, antimalarial agents, and immunosuppressant therapies are not always effective in moderating disease activity. We report a 41-year-old Caucasian female patient with a 12-year history of SLE complicated by debilitating nocturnal fevers and WHO Class IV lupus nephritis who for years was refractory to standard therapies but improved dramatically with canakinumab, an interleukin-1β (IL-1β)antagonist. This is the first case of the use of canakinumab in SLE. The standard interventions demonstrated no significant impact on her proteinuria (>3 g/24 h), joint complaints, and nocturnal fevers. Additionally, her anti-dsDNA levels remained elevated, and her kidney function did not improve significantly. In contrast, the introduction of canakinumab provided a rapid reduction in nocturnal fevers within 6 weeks (i.e. decreased in frequency by 90%). Her proteinuria has also dropped from 3.5 g/24 h to 0.274 g/24 h, and her prednisone has been tapered and discontinued. In addition, her renal function has improved with an average glomerular filtration rate (GFR) level of 84.14 ± 7.56. There has also been a significant decrease in both erythrocyte sedimentation rate (ESR) and anti-dsDNA levels compared with the previous treatments. We report that canakinumab could potentially represent the next step in SLE patients' treatment who have failed conventional therapies or who are intolerant to them. In this case, the addition of canakinumab facilitated the tapering and ultimately discontinuing of corticosteroids. This case represents the first successful use of canakinumab in the treatment of refractory fevers and diffuse proliferative glomerulonephritis in SLE.</p>","PeriodicalId":75218,"journal":{"name":"Therapeutic advances in rare disease","volume":"4 ","pages":"26330040231191141"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/a9/79/10.1177_26330040231191141.PMC10469244.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10507136","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}