RESUMO
The oculocerebrorenal disorder of Lowe syndrome is an X-linked mutation in the gene oculocerebrorenal syndrome of Lowe 1 (OCRL), characterized by the triad of congenital cataracts, severe intellectual impairment, and renal tubular dysfunction. Manifestations of phenotype in female carriers and patients are extremely rare. We present a female case with congenital cataracts, severe intellectual impairment, sensorineural hearing loss, and renal tubular dysfunction as Lowe syndrome. A 9-year-old Japanese girl visited our hospital due to prolonged proteinuria. Her renal biopsy revealed diffuse mesangium proliferation, sclerosis and dilatation of renal tubules, and mild IgA deposition in the mesangial region. Furthermore, she had congenital cataracts, severe intellectual impairment, and sensorineural hearing loss. Genetic screening did not identify mutations of the ORCL gene encoding inositol polyphosphate 5-phosphatase (IPP-5P) (46 XX, female). However, we found the reduction of enzyme activity of IPP-5P to 50% of the normal value. Furthermore, her renal function had deteriorated to renal failure within a decade. Finally, she received peritoneal dialysis and renal transplantation. We present the oculocerebrorenal phenotype of Lowe syndrome in a female patient with reduced activity of IPP-5P without OCRL gene mutation.
Assuntos
Inositol Polifosfato 5-Fosfatases/metabolismo , Síndrome Oculocerebrorrenal/diagnóstico , Síndrome Oculocerebrorrenal/genética , Insuficiência Renal/terapia , Povo Asiático/etnologia , Povo Asiático/genética , Catarata/congênito , Criança , Progressão da Doença , Feminino , Glomerulonefrite por IGA/complicações , Perda Auditiva Neurossensorial/congênito , Humanos , Deficiência Intelectual/diagnóstico , Transplante de Rim/métodos , Túbulos Renais Proximais/patologia , Mutação , Síndrome Oculocerebrorrenal/enzimologia , Diálise Peritoneal/métodos , Fenótipo , Proteinúria/diagnóstico , Proteinúria/etiologia , Índice de Gravidade de DoençaRESUMO
A 10-yr-old boy visited Minoh City Hospital complaining of gross hematuria. Laboratory investigations revealed hypercalcemia, hypophosphatemia, and elevated serum levels of parathyroid hormone. A stone was found in the right ureter with drip infusion pyelography. A parathyroid adenoma was successfully diagnosed with computed tomography, ultrasonography, and methoxy-2-isobutyl isonitrile (MIBI) scintigraphy. Multiple endocrine neoplasia was ruled out by normal results of endocrine laboratory examinations. Extracorporeal shock wave lithotripsy was performed to treat the urolithiasis, and the parathyroid adenoma was surgically removed. Primary hyperparathyroidism is rare in childhood; however, this case suggests that gross hematuria is an important sign of hyperparathyroidism.
RESUMO
We experienced a suspected case of pseudohypoparathyroidism type II. The patient came to our emergency room with no thermal convulsion. The Ellsworth-Howard test was applied to the patient to determine the type of PHP.