Diouf B, Niang A, Ka M M, Ka E F, Diouf M L, Ba A, Droz D, Benessy F, Antignac C, Moreira Diop T, Bao O
Clinique médicale I, Hôpital Aristide Le Dantec, Dakar.
Nephrologie. 1997;18(7):299-302.
Nephronophtisis is a familial tubulo-interstitial nephropathy with an autosomic recessive mode of transmission. To our knowledge, it has not been yet reported in Black Africa. We report here the case of a 17-year old female from Senegal who presented with renal failure related to a chronic interstitial nephritis characterized by polyuria, hypocalcemia, natriuresis of 23 mmol/l and serum creatinine level of 1070 mumol/l. The parents of this patient were first-degree cousins. Among the 6 siblings, 2 other males were found to have a renal disease. Ultrasound examination of the kidneys showed medullary cysts in the 2 affected brothers and the renal biopsy in one case showed tubular atrophy, with thickening of the basal lamina and an interstitial fibrosis without glomerular involvement. Molecular genetic analysis confirmed the diagnosis of nephronophtisis, with a homozygous deletion of the NPH1 region. In order to recognize this disease early in life, one has to look for it in patients with tubulo-interstitial nephritis, polyuria, childhood enuresia especially when it is associated with growth retardation or tetany. This case raises the issue of consanguinity and endogamy which are frequently encountered in Africa. It also extends the geographic and ethnic distribution of nephronophtisis, being the first cases reported Black Africans.
肾痨是一种常染色体隐性遗传的家族性肾小管间质性肾病。据我们所知，在非洲黑人中尚未有相关报道。我们在此报告一例来自塞内加尔的17岁女性病例，该患者因慢性间质性肾炎出现肾衰竭，其特征为多尿、低钙血症、尿钠排泄量为23 mmol/l以及血清肌酐水平为1070 μmol/l。该患者的父母是一级亲属。在其6个兄弟姐妹中，另外2名男性也被发现患有肾脏疾病。对肾脏的超声检查显示，2名患病兄弟存在髓质囊肿，其中1例的肾活检显示肾小管萎缩，基底膜增厚，伴有间质纤维化，未累及肾小球。分子遗传学分析确诊为肾痨，NPH1区域存在纯合缺失。为了在早期识别这种疾病，对于患有肾小管间质性肾炎、多尿、儿童遗尿症的患者，尤其是伴有生长发育迟缓或手足搐搦的患者，必须加以关注。该病例引发了非洲常见的近亲结婚和族内通婚问题。它还扩展了肾痨的地理和种族分布范围，这是首次报道的非洲黑人病例。
