Publications by authors named "Min-Hua Tseng"

Alport syndrome (AS) is a progressive hereditary kidney disease characterized by hematuria, proteinuria, and progressive kidney dysfunction accompanied by sensorineural hearing loss and ocular abnormalities. Pathogenic variants can result in different AS spectra. Further, kidney cysts have been reported in adults with AS.

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Introduction: This study aimed to evaluate prognostic factors and outcomes in a single-center PICU cohort that received continuous renal replacement therapy (CRRT).

Methods: This retrospective study analyzed clinical characteristics, laboratory data, and outcomes. Ninety-day mortality and advanced chronic kidney disease (CKD) (eGFR <60 mL/min/1.

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Background/purpose: Congenital nephrotic syndrome (CNS) is one of the important causes of end-stage kidney disease in children. Studies on the genotype, phenotype, and clinical outcome in infants with CNS caused by genetic mutations are scarce.

Methods: We analyzed the genetic background, clinical manifestations, treatment response, and prognosis of pediatric patients with CNS in Taiwan.

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Atypical hemolytic uremic syndrome (aHUS), characterized by microangiopathic hemolytic anemia, thrombocytopenia, and acute kidney injury, is a rare but life-threatening systemic disorder caused by the dysregulation of the complement pathway. Current advances in molecular analysis and pathogenesis have facilitated the establishment of diagnosis and development of effective complement blockade. Based on this recent consensus, we provide suggestions regarding the diagnosis and management of aHUS in Taiwan.

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Background: Systemic lupus erythematosus (SLE) is rarely diagnosed before 5-years-old. Those with disease onset at a very young age are predicted by a higher genetic risk and a more severe phenotype. We performed whole-exome sequencing to survey the genetic etiologies and clinical manifestations in patients fulfilling 2012 SLICC SLE classification criteria before the age of 5.

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is primarily expressed in the brain and distal convoluted tubule (DCT) of the kidney. Mutations in have been reported to cause hypomagnesemia, seizure, and intellectual disability (HSMR) syndrome. However, the clinical and functional effect of CNNM2 mutations remains incompletely understood.

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Complement-mediated hemolytic uremic syndrome (CM-HUS) following chemotherapy for pediatric acute lymphoid neoplasms has rarely been reported. We report the case of an 8-year-old boy with T-lymphoblastic lymphoma (T-LBL) who developed CM-HUS with complement factor H (CFH) mutations (S1191L, V1197A) during induction therapy. Safe administration of chemotherapy after CM-HUS recovery was challenging.

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Magnesium (Mg) is an important intracellular cation and essential to maintain cell function including cell proliferation, immunity, cellular energy metabolism, protein and nucleic acid synthesis, and regulation of ion channels. Consequences of hypomagnesemia affecting multiple organs can be in overt or subtle presentations. Besides detailed history and complete physical examination, the assessment of urinary Mg excretion is help to differentiate renal from extra-renal (gastrointestinal, tissue sequestration, and shifting) causes of hypomagnesemia.

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Renal arterial infarction can present with hematuria, proteinuria, and hypertension, features often linked to glomerular disease. An aortic aneurysm is an extraordinarily rare complication of coarctation of the aorta. Acute renal infarction caused by emboli from the aortic aneurysm is a possible complication that has not been reported.

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Recurrent mutations in the SLC12A3 gene responsible for autosomal recessive Gitelman syndrome (GS) are frequently reported, but the exact prevalence is unknown. The rapid detection of recurrent SLC12A3 mutations may help in the early diagnosis of GS. This study was aimed to investigate the prevalence of recurrent SLC12A3 mutations in a Taiwan cohort of GS families and develop a simple and rapid method to detect recurrent SLC12A3 mutations.

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Thrombotic microangiopathy (TMA) syndromes are extraordinarily diverse in clinical presentations and etiologies. However, there are still a limited number of large cohort studies focusing on the underlying causes, outcomes, and response to plasmapheresis.A retrospective study was designed to understand trigger etiologies, organ dysfunctions, clinical outcomes, and efficacy of plasmapheresis in patients with TMA.

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Systemic lupus erythematosus (SLE), an autoimmune disease, is characterized by the overproduction of autoantibodies. Anti-neutrophil cytoplasmic antibodies (ANCAs) have been recognized in SLE for decades. To date, their association with SLE disease activity, especially in pediatric-onset SLE (pSLE) patients, is limited.

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Article Synopsis
  • Researchers identified a founder mutation involving a 2870 bp deletion and 9 bp insertion in the angiotensinogen gene, linked to a severe form of autosomal recessive renal tubular dysgenesis (ARRTD).
  • High-dose hydrocortisone therapy was effective in one patient, boosting levels of angiotensinogen and its components, which led to a significant clinical improvement.
  • The study suggests that the truncated angiotensinogen protein resulting from the mutation has lower stability and interaction with renin, and hydrocortisone may enhance its stability and therapeutic potential by improving this interaction.
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Renal thrombotic microangiopathy (TMA) is associated with complement overactivation and poor outcome in patients with lupus nephritis (LN). The role of genetic makeup of complement system in these patients remains to be elucidated. The clinical and laboratory characteristics of 100 patients with LN during 2010-2017 were retrospectively analyzed.

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Article Synopsis
  • Autosomal recessive renal tubular dysgenesis (ARRTD) is a rare and often fatal condition linked to specific mutations, with this study highlighting cases in Taiwan.
  • Six individuals from unrelated families presented critical symptoms like low amniotic fluid, inability to urinate, lung underdevelopment, and severe low blood pressure, with most cases leading to neonatal death.
  • A common genetic mutation was identified that impacts angiotensinogen protein function, and one patient showed improvement with high-dose hydrocortisone treatment, suggesting potential therapeutic options for ARRTD.
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Acute kidney injury (AKI) is a common complication of perinatal asphyxia and is associated with poorer short-term and long-term outcomes. This retrospective study describes the incidence of AKI in asphyxiated neonates who have received therapeutic hypothermia using the proposed modified Kidney Diseases: Improving Global Outcomes (KDIGO) definition and investigates clinical markers that would allow earlier recognition of at-risk neonates. We included asphyxiated  neonates who underwent therapeutic hypothermia between the period of January 2011 and May 2018 in our study.

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