Inherited disorder characterized by rapidly
progressive renal insufficiency (nephronophthisis) and eye disease
Familial Juvenile Nephronophthisis with Associated Ocular
Anomaly; Hereditary Renal Dysplasia-Blindness; Renal Dysplasia-Retinal
Aplasia, Loken-Senior type; Familial Renal-Retinal Dystrophy; Renal-Retinal
Syndrome; Senior-Biochi Syndrome; Senior-Loken Syndrome.
Incidence of all nephrophthisis disorders is
approximately 1:1,000,000 population in the United States and still more in
Europe. No racial predilection; both sexes are equally affected.
Autosomal recessive. Gene map locus mostly
unknown. Candidate loci are 1p36, 2q12-q13, and 15q.
The function of α6 integrin is
defective. Probably as a compensatory mechanism, there is also an abnormal
expression of the α5 integrin fibronectin receptor in the
tubular basement membrane. This process may lead to destruction of the
tubular basement membrane, resulting in gradual loss of kidney function and
development of cysts in the renal medulla.
Renal insufficiency and severe normocytic and
normochromic anemia. Serum erythropoietin concentration is lower than in
patients with other progressive renal diseases. Laboratory findings
indicative of renal failure: metabolic acidosis, hypocalcemia,
hyperphosphatemia, elevated serum BUN and creatinine concentrations. Imaging
studies showing multiple cysts, typically in the medulla and
corticomedullary region. Ophthalmoscopy and electroretinography are
consistent with tapetoretinal degeneration. Renal biopsy shows typical
lesions. The prognosis is poor (death before age 10 years in most patients).
Symptoms include high urine output (patient
cannot concentrate the urine), nocturia, headache, anorexia, progressive
weakness, and weight loss. The disease progresses from chronic renal failure
to end-stage renal disease. No curative treatment is available except for renal transplant.
Check severity of renal failure
(blood and urine tests). Request preoperative dialysis in patient with
severe renal insufficiency. Check red blood cell count. Consider preoperative treatment
with erythropoietin to improve anemia. Preoperative eye examination is
Presence of chronic renal failure leads
to increased sensitivity to opioid analgesic agents. Danger of fluid
overload (or hypovolemia after dialysis therapy). Severe anemia may require
Unable to metabolize nitroprusside.
Saldino-Mainzer Syndrome (Conorenal Syndrome; Retinal Pigmentary
Dystrophy-Cerebral Ataxia-Skeletal Dysplasia Syndrome): Characterized by chronic renal failure and
the presence of prominent cone-shaped epiphyses in the distal phalanges and cone-shaped
epiphyses in the middle phalanges of the hands. The clinical association has led to name
this medical condition as “conorenal syndrome." Other clinical features include retinitis
pigmentosa, cerebellar ataxia, nephronophthisis (medullary cystic kidney disease), often
evolving to end-stage renal disease. Percutaneous renal biopsy showed global scarring and
acellularity of many glomeruli in both sibs.
Polycystic Kidney Disease (PKD): Usually with congenital hepatic
fibrosis and prone to result in severe renal failure.
Fleischhauer J, Njoh WA, Niemeyer G: Syndromic retinitis pigmentosa: ERG and phenotypic changes. Klin Monatsbl Augenheilkd
Schuermann MJ, Otto E, Becker A, et al: Mapping of gene loci for
nephronophthisis type 4 and Senior-Loken syndrome, to chromosome 1p36. ...