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Nephronophthisis-like nephropathy 2(NPHPL2)

MedGen UID:
1794163
Concept ID:
C5561953
Disease or Syndrome
Synonyms: NEPHRONOPHTHISIS-LIKE NEPHROPATHY 2; NPHPL2
 
Gene (location): SLC41A1 (1q32.1)
 
Monarch Initiative: MONDO:0859175
OMIM®: 619468

Definition

Nephronophthisis-like nephropathy-2 (NPHPL2) is an autosomal recessive cystic kidney disease characterized by onset of progressive renal insufficiency in the first decades of life. Renal imaging and biopsy show corticomedullary cysts, tubular ectasia, tubular basement membrane disruption, and tubulointerstitial infiltrations. Patients eventually progress to end-stage renal failure, necessitating kidney transplantation or dialysis (summary by Hurd et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of nephronophthisis, see NPHP1 (256100). [from OMIM]

Clinical features

From HPO
Polyuria
MedGen UID:
19404
Concept ID:
C0032617
Sign or Symptom
An increased rate of urine production.
Renal insufficiency
MedGen UID:
332529
Concept ID:
C1565489
Disease or Syndrome
A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.
Stage 5 chronic kidney disease
MedGen UID:
384526
Concept ID:
C2316810
Disease or Syndrome
A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine.
Periglomerular fibrosis
MedGen UID:
1702350
Concept ID:
C5139330
Pathologic Function
Circumferential fibrosis in the interstitium surrounding Bowman's capsule
Tubular luminal dilatation
MedGen UID:
1714243
Concept ID:
C5397640
Finding
Dilatation (expansion beyond the normal dimension) of the cavity (lumen) of tubules of the kidney. The tubular cross section displays an attenuated brush border (apical PAS positivity greater than 10 percent of the normal expected height, but unequivocally less than normal expected height), resulting in an apparent increase in the size of lumen.
Polydipsia
MedGen UID:
43214
Concept ID:
C0085602
Sign or Symptom
Excessive thirst manifested by excessive fluid intake.
Bronchiectasis
MedGen UID:
14234
Concept ID:
C0006267
Disease or Syndrome
Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways.
Cough
MedGen UID:
41325
Concept ID:
C0010200
Sign or Symptom
A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation.
Pulmonary infiltrates
MedGen UID:
116009
Concept ID:
C0235896
Finding
A finding indicating the presence of an inflammatory or neoplastic cellular infiltrate in the lung parenchyma.
Recurrent respiratory infections
MedGen UID:
812812
Concept ID:
C3806482
Finding
An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.
Elevated circulating creatinine concentration
MedGen UID:
148579
Concept ID:
C0700225
Finding
An increased amount of creatinine in the blood.
Recurrent fever
MedGen UID:
811468
Concept ID:
C3714772
Sign or Symptom
Periodic (episodic or recurrent) bouts of fever.

Recent clinical studies

Diagnosis

Bacchetta J, Chapurlat R, Bouvier R, Antignac C, Dubourg L, Kohler R, Delmas PD, Cochat P
Pediatr Nephrol 2008 Sep;23(9):1559-63. Epub 2008 May 30 doi: 10.1007/s00467-008-0850-x. PMID: 18512082

Therapy

Bacchetta J, Chapurlat R, Bouvier R, Antignac C, Dubourg L, Kohler R, Delmas PD, Cochat P
Pediatr Nephrol 2008 Sep;23(9):1559-63. Epub 2008 May 30 doi: 10.1007/s00467-008-0850-x. PMID: 18512082

Clinical prediction guides

Hurd TW, Otto EA, Mishima E, Gee HY, Inoue H, Inazu M, Yamada H, Halbritter J, Seki G, Konishi M, Zhou W, Yamane T, Murakami S, Caridi G, Ghiggeri G, Abe T, Hildebrandt F
J Am Soc Nephrol 2013 May;24(6):967-77. Epub 2013 May 9 doi: 10.1681/ASN.2012101034. PMID: 23661805Free PMC Article

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