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Juvenile nephronophthisis-medullary cystic disease complex: a family study
1Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan, R.O.C.
Insights
Juvenile nephronophthisis (JN) and medullary cystic disease (MCD) may represent a single clinical complex, as age of onset does not differentiate them. Early examination and family history are crucial for detecting these kidney diseases in children.
Area of Science:
- Pediatric Nephrology
- Medical Genetics
- Diagnostic Imaging
Background:
- Medullary cystic kidney disease (MCKD) and juvenile nephronophthisis (JN) are inherited renal disorders.
- These conditions present with similar clinical manifestations including growth retardation, polyuria, and renal insufficiency.
- Distinguishing between JN and MCKD can be challenging due to overlapping symptoms and genetic heterogeneity.
Purpose of the Study:
- To investigate the clinical and pathological features of two sisters diagnosed with juvenile nephronophthisis.
- To evaluate the utility of ultrasonography in diagnosing kidney cysts and related renal abnormalities.
- To determine the relationship between juvenile nephronophthisis and medullary cystic disease through family screening.
Main Methods:
- Clinical evaluation of two pediatric patients presenting with growth retardation, polyuria, and nocturnal enuresis.
- Renal function tests, including urinary concentration, sodium levels, and anemia assessment.
- Renal ultrasonography to assess kidney echogenicity, corticomedullary differentiation, and cyst presence.
- Renal histopathology examination of kidney biopsy samples.
- Family screening using ultrasonography to identify affected individuals across generations.
Main Results:
- Both sisters exhibited poor urinary concentration, sodium wasting, anemia, and renal insufficiency.
- Renal ultrasonography revealed increased echogenicity, loss of corticomedullary differentiation, and tiny corticomedullary cysts.
- Histopathology showed mild glomerular mesangial changes, tubular atrophy, and thickened tubular basement membranes.
- Ultrasonography identified six additional affected individuals in two generations of the paternal family, with five showing renal cysts.
- Three family members progressed to renal failure, while five maintained stable renal function after three years of treatment.
Conclusions:
- Juvenile nephronophthisis and medullary cystic disease may be part of a single clinical spectrum, as age of onset is not a differentiating factor.
- The absence of corticomedullary cysts on ultrasonography does not rule out the diagnosis of these conditions.
- Early clinical examination and thorough family history investigation are essential for timely diagnosis and management of children with suggestive symptoms.
Abstract:
Two sisters, eight and six years old, respectively, were admitted to Mackay Memorial Hospital in 1993 with the chief complaints of growth retardation, polyuria and nocturnal enuresis. Poor urinary concentration, sodium wasting, anemia and renal insufficiency were noted during hospitalization. Ultrasonography revealed increased renal echogenicity, loss of corticomedullary differentiation and multiple tiny corticomedullary cysts in both kidneys. Renal histopathology showed mild increase in glomerular mesangial cellularity and matrix, mild focal tubular atrophy with thickening of the tubular basement membrane. Other family members were screened by ultrasonography and found another six patients in two generations of the paternal side. Renal cysts were found in five cases. Three of them had progressively deteriorating renal failure. Five had stable renal function after three years of supportive treatment. Thus, it was concluded that the age of onset does not differentiate medullary cystic disease (MCD) from juvenile nephonophthisis (JN), and that JN and MCD could be considered a clinical complex. The absence of corticomedullary cysts on ultrasonography does not preclude the diagnosis. It is also suggested that any children with clinical symptoms of polyuria, polydipsia, anemia and growth retardation from their early years should be carefully examined, and the family history should be investigated to permit early detection of the disease.