Multisystem disorder associated with a pathogenic variant in CLCN7 in the absence of osteopetrosis.

Background: We clinically and genetically evaluated a Taiwanese boy presenting with developmental delay, organomegaly, hypogammaglobulinemia and hypopigmentation without osteopetrosis. Whole-exome sequencing revealed a de novo gain-of-function variant, p.Tyr715Cys, in the C-terminal domain of ClC-7 encoded by CLCN7.

Kidney Cysts in Children With Alport Syndrome: A Report of 3 Cases.

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.

Phenotype, genotype, and clinical outcome of Taiwanese with congenital nephrotic syndrome.

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.

Atypical hemolytic uremic syndrome: Consensus of diagnosis and treatment in Taiwan.

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.

Nephrocalcinosis in children who received high-dose vitamin D.

Background: Vitamin D supplements are readily available as over-the-counter preparations. However, although rare, cases of vitamin D overdose still occur and are associated with nephrocalcinosis and life-threatening hypercalcemia. Errors in manufacturing of nutritional supplements may be a cause of vitamin D intoxication in children.

Zinner syndrome in children: clinical presentation, imaging findings, diagnosis, and outcome.

Background: Zinner syndrome (ZS), the association of congenital seminal vesicle cyst (SVC) and ipsilateral kidney anomalies, is rarely diagnosed in childhood. This study aimed to assess presentation, imaging findings, management, and outcome of pediatric ZS.

Methods: Sixteen children with ZS were diagnosed and managed at our hospital from 2003 to 2021.

Asian guidelines for urinary tract infection in children.

The followings are the level of evidence (LE) and grade of recommendation (GR) on pediatric UTI in Asia. Classification according to the sites of infection (lower versus upper tract), the number of episode (first versus recurrent), the severity (simple versus severe), or the existence of complicating factor (uncomplicated versus complicated) is useful to differentiate children with UTI whether they are at risk of renal damage or not (LE: 2, GR: B). Diagnosis of UTI requires both urinalysis that suggests infection and positive urine culture (LE:3, GR B).

Allele-specific RT-PCR for the rapid detection of recurrent SLC12A3 mutations for Gitelman syndrome.

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.

Tourette syndrome associated with Page kidney.

Page kidney is a rare condition leading to secondary hypertension and encountered most frequently due to traumatic subcapsular hematoma. Here, we present a case of a 15-year-old boy with a history of Tourette syndrome, who had Page kidney hypertension secondary to subcapsular hematoma compression due to his self-injury behavior for many years.

Clinical characteristics, triggering etiologies, and response of plasmapheresis in thrombotic microangiopathy in Taiwan.

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.

Clinical features, genetic background, and outcome in infants with urinary tract infection and type IV renal tubular acidosis.

Background: Type IV renal tubular acidosis (RTA) is a severe complication of urinary tract infection (UTI) in infants. A detailed clinical and molecular analysis is still lacking.

Methods: Infants with UTI who exhibited features of type IV RTA were prospectively enrolled.

Whole-exome sequencing detects mutations in pediatric patients with atypical hemolytic uremic syndrome in Taiwan.

Although atypical hemolytic uremic syndrome (aHUS) is a genetic disorder, molecular defects are detected in only 60% of patients. We aim to dissect the genetic background by whole exome sequence and the clinical characteristics of pediatric patients with aHUS. Ten patients (6 male and 4 female) with mean age 5.

Galloway-Mowat syndrome in Taiwan: OSGEP mutation and unique clinical phenotype.

Background: Galloway-Mowat syndrome (GAMOS) is a rare autosomal recessive disease characterized by the combination of glomerulopathy with early-onset nephrotic syndrome and microcephaly with central nervous system anomalies. Given its clinical heterogeneity, GAMOS is believed to be a genetically heterogenous group of disorders. Recently, it has been reported that mutations in KEOPS-encoding genes, including the OSGEP gene, were responsible for GAMOS.

Continuous low-dose everolimus shrinkage tuberous sclerosis complex-associated renal angiomyolipoma: a 48-month follow-up study.

Tuberous sclerosis complex (TSC) is a rare disease that causes multisystem benign neoplasm, induced by dysregulation of the mammalian target of the rapamycin pathway (mTOR). This study aimed to examine the effects of continuous low-dose everolimus, a potent and selective inhibitor of mTOR, on the treatment of TSC-associated renal angiomyolipoma (AML). Between July 2013 and August 2017, 11 patients with TSC-AML were enrolled for an everolimus therapy protocol.

Management of nocturnal enuresis in Taiwan: Consensus statements of the Taiwan enuresis expert committee.

Nocturnal enuresis causes significant psychological distress to affected children and their family and requires appropriate management. A 12-member expert committee of pediatric urologists and pediatric nephrologists in Taiwan with extensive experience in treating enuresis was established to develop consensus statements and a recommended treatment algorithm for the management of patients with nocturnal enuresis in Taiwan after careful consideration of current evidence, existing guidelines, and expert opinion as well as local practice and culture. The finalized consensus statements were reviewed by and have received endorsement from the Taiwan Urological Association and the Taiwan Pediatric Association.