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1.
N Engl J Med ; 387(20): 1906-1907, 2022 11 17.
Article in English | MEDLINE | ID: mdl-36383719
4.
Clin Nephrol ; 88(9): 162-166, 2017 Sep.
Article in English | MEDLINE | ID: mdl-28766492

ABSTRACT

Heterozygous hepatocyte nuclear factor-1-α gene (HNF1A) mutations are the most common cause of maturity-onset diabetes of the young (MODY), but they rarely involve extrahepatic manifestations. Renal cysts and diabetes syndrome can be caused by HNF1B mutations. No association between MODY3 and Dandy-Walker variants (DWV) has been reported. HNF1A mutations might be responsible for renal malformations. In a Japanese girl with glycosuria, developmental delay, mental retardation, renal cysts, and DWV, the HNF1B gene had no mutations. Array comparative genomic hybridization analysis identified a de-novo interstitial 12q24.22-q24.31 deletion of 5.6 Mb encompassing the HNF1A gene, which is compatible with a diagnosis of MODY3. The variety of phenotypes suggests a novel microdeletion syndrome spanning the HNF1A gene. Because HNF1B functions as an HNF1A/HNF1B heterodimer, haploinsufficient HNF1A interacts with a certain HNF1B haplotype. The resulting truncated heterodimer might engender renal cysts. More patients with well-defined deletion within 12q.24.31 must be evaluated to produce a detailed genotype-phenotype correlation and to elucidate this emerging microdeletion syndrome.
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Subject(s)
Dandy-Walker Syndrome/genetics , Diabetes Mellitus, Type 2/genetics , Gene Deletion , Hepatocyte Nuclear Factor 1-alpha/genetics , Kidney Diseases, Cystic/genetics , Child , Comparative Genomic Hybridization , Female , Genetic Association Studies , Humans , Mutation
5.
CEN Case Rep ; 5(2): 131-136, 2016 Nov.
Article in English | MEDLINE | ID: mdl-28508962

ABSTRACT

IgA nephropathy (IgAN), the most prevalent primary chronic glomerulonephritis worldwide, has three major risk factors: hypertension, proteinuria >1 g/day, and severe renal lesions. Obesity also portends a poor prognosis. A Japanese boy with IgAN showed nephrotic syndrome at presentation. Pathological features resembled those of membranoproliferative glomerulonephritis (MPGN), although IgA deposition differed from MPGN and IgAN. Combination therapy improved renal lesions, but rebound deterioration of proteinuria occurred in this patient, who had marked obesity and hypertension. Serial kidney biopsy specimens were compatible with obesity-related glomerulopathy (ORG). Rebound proteinuria was apparently attributable to ORG rather than relapse and flaring up of IgAN.

8.
CEN Case Rep ; 1(2): 86-89, 2012 Nov.
Article in English | MEDLINE | ID: mdl-28509067

ABSTRACT

Wilms' tumor (WT), also called nephroblastoma, is an embryonic neoplasm of the developing kidney. A previously healthy Japanese female infant had WT in a single kidney without associated congenital malformations. Preoperative chemotherapy was started for the preservation of renal tissue and function. Tumor lysis syndrome, disseminated intravascular coagulopathy, and acute renal failure were accompanying. The infant needed surgical intervention and permanent replacement therapy. At the start of emergency hemodialysis, the infant had posterior reversible leukoencephalopathy syndrome because of severe hypertension. During ongoing peritoneal dialysis, the infant suffered from anemia, dietary and fluid restriction, and restriction of time and mobility. Despite alfacalcidol and calcium supplementation, the infant had secondary hyperparathyroidism and remarkably short stature. After waiting for the completion of chemotherapy, renal transplantation from the mother was completed. Successful kidney transplantation promptly corrected preexisting metabolic abnormalities causing secondary hyperparathyroidism. Subsequently, the infant often complained of headache. Computed tomographic scanning revealed calcification in the cerebellum. Refractory secondary hyperparathyroidism was inferred as the cause. A well-functioning graft provided the infant with a greater sense of well-being and enabled her to enjoy a lifestyle free of dialysis, although the infant must continue taking transplant medications and has retained unresolved issues of short stature and ectopic intracranial calcification.

13.
Am J Kidney Dis ; 43(3): e7-12, 2004 Mar.
Article in English | MEDLINE | ID: mdl-14981635

ABSTRACT

X-Linked thrombocytopenia (XLT) is characterized by congenital thrombocytopenia with small platelets and absence of immunodeficiency; XLT is an allelic variant of Wiskott-Aldrich syndrome (WAS). Both entities are caused by mutations in the same gene. This study presents the case of an 8-year-old boy with XLT. He developed immunoglobulin A (IgA) nephropathy at the age of 4 years. Genetic analysis confirmed the XLT diagnosis. His maternal uncle also had thrombocytopenia from early infancy and developed end-stage renal failure as a result of IgA nephropathy. The maternal uncle was inferred to be affected with XLT because of the carrier status of the patient's mother. Abnormal glycosylation has a role in pathogenesis in IgA nephropathy; moreover, sialophorin glycosylation is defective in WAS. Altered glycosylation may contribute to renal involvement in patients with WAS/XLT despite different defective glycosylation patterns in IgA nephropathy and WAS/XLT.


Subject(s)
Genetic Diseases, X-Linked/physiopathology , Glomerulonephritis, IGA/genetics , Thrombocytopenia/genetics , Wiskott-Aldrich Syndrome/physiopathology , Child , Glycosylation , Humans , Male
14.
Urol Int ; 71(3): 329-30; discussion 330, 2003.
Article in English | MEDLINE | ID: mdl-14512659

ABSTRACT

A 7-month-old boy with a solitary kidney showed recurrent urinary tract infection. Magnetic resonance urography helps in the identification of vesicoureteral junction obstruction associated with unilateral renal agenesis.


Subject(s)
Kidney/abnormalities , Ureteral Obstruction/complications , Humans , Infant , Kidney/pathology , Magnetic Resonance Imaging , Male , Ureteral Obstruction/pathology , Urinary Bladder
15.
Pediatr Nephrol ; 18(3): 297-300, 2003 Mar.
Article in English | MEDLINE | ID: mdl-12644929

ABSTRACT

We describe an 8-year-old boy who presented with steroid-resistant nephrotic syndrome (SRNS) associated with X-linked ichthyosis (XLI). At birth, the patient exhibited scaly skin, cryptorchidism, and steroid sulfatase (STS) deficiency. DNA analysis showed deletion of exons 1-10 of the STS gene. Proteinuria developed at 6 years and was resistant to steroid therapy. Kidney biopsy findings prior to steroid therapy were compatible with minimal change nephrotic syndrome. By immunofluorescence, glomerular basement membranes exhibited diffuse linear staining for the alpha5 chain of collagen IV, making X-linked Alport syndrome an unlikely explanation for the association of SRNS and ichthyosis. Despite immunosuppressive therapy together with oral prednisolone, no clinical response was achieved. He rapidly reached end-stage renal failure and finally underwent renal transplantation. We propose that SRNS should be considered as one of the highly variable phenotypes associated with XLI.


Subject(s)
Ichthyosis, X-Linked/complications , Kidney Failure, Chronic/complications , Biopsy , Child , Glomerulosclerosis, Focal Segmental/complications , Glomerulosclerosis, Focal Segmental/pathology , Glomerulosclerosis, Focal Segmental/surgery , Humans , Ichthyosis, X-Linked/genetics , Ichthyosis, X-Linked/pathology , Kidney Failure, Chronic/pathology , Kidney Failure, Chronic/surgery , Kidney Transplantation , Male , Steryl-Sulfatase/genetics
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